Canonical Allele Identifier: CA116662

Linked Data

ClinVar Variation Id: 4156
dbSNP Id: rs121908065
gnomAD v4: 17-4933119-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4933119C>T , CM000679.2:g.4933119C>T GRCh38
NC_000017.10:g.4836414C>T , CM000679.1:g.4836414C>T GRCh37
NC_000017.9:g.4777194C>T NCBI36
NG_008767.2:g.5825C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000329125.6:c.515C>T (GP1BA) MANE Select ENSP00000329380.5:p.Ala172Val
ENST00000649830.1:c.-888+1223G>A (CHRNE) ENSP00000496907.1:n.-888+1223G>A
ENST00000329125.5:c.515C>T (GP1BA) ENSP00000329380.5:p.Ala172Val
ENST00000611961.1:c.515C>T (GP1BA) ENSP00000484439.1:p.Ala172Val
NM_000173.6:c.515C>T (GP1BA) NP_000164.5:p.Ala172Val
NM_000173.7:c.515C>T (GP1BA) MANE Select NP_000164.5:p.Ala172Val