Data Browser v1

Examples - Gene: DNM1, Region: 15:26792932-26818879, Variant: 9-140043500-G-A


Note This screen lists all Ensembl-based annotations for the selected variant. This includes annotations with overlapping genes.

Variant: 9-140057118-A-C Allele Count: 1   Sample Count: 329   MAF: 0.0015   CADD Score: 19.84

Gene Transcript Codon Change AA Change CCDS Consequence PolyPhen-2 HumVar SIFT
GRIN1 ENST00000371553 tAc/tCc Y668S CCDS55354.1 missense probably_damaging(1) deleterious(0)
GRIN1 ENST00000315048 tAc/tCc Y647S - missense probably_damaging(0.999) deleterious(0)
GRIN1 ENST00000371561 tAc/tCc Y647S CCDS7031.1 missense probably_damaging(1) deleterious(0)
GRIN1 ENST00000371560 tAc/tCc Y668S CCDS55355.1 missense probably_damaging(1) deleterious(0)
GRIN1 ENST00000371559 tAc/tCc Y647S CCDS43910.1 missense probably_damaging(0.999) deleterious(0)
GRIN1 ENST00000371555 tAc/tCc Y668S - missense probably_damaging(1) deleterious(0)
GRIN1 ENST00000371550 tAc/tCc Y647S CCDS7032.1 missense probably_damaging(0.999) deleterious(0)
GRIN1 ENST00000371546 tAc/tCc Y668S - missense probably_damaging(0.999) deleterious(0)
GRIN1 ENST00000350902 tAc/tCc Y647S - missense probably_damaging(1) deleterious(0)
GRIN1 ENST00000471122 - - - noncoding exon - -
GRIN1 ENST00000460273 - - - upstream - -
GRIN1 ENST00000473811 - - - upstream - -
GRIN1 ENST00000485413 - - - downstream - -