Canonical Allele Identifier: CA8315000

Linked Data

dbSNP Id: rs755360664
gnomAD v2: 17-4837352-G-A
gnomAD v3: 17-4934057-G-A
gnomAD v4: 17-4934057-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4934057G>A , CM000679.2:g.4934057G>A GRCh38
NC_000017.10:g.4837352G>A , CM000679.1:g.4837352G>A GRCh37
NC_000017.9:g.4778093G>A NCBI36
NG_008767.2:g.6763G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.1453G>A (GP1BA) MANE Select ENSP00000329380.5:p.Val485Ile
ENST00000649830.1:c.-888+285C>T (CHRNE) ENSP00000496907.1:n.-888+285C>T
ENST00000329125.5:c.1453G>A (GP1BA) ENSP00000329380.5:p.Val485Ile
ENST00000611961.1:c.1375G>A (GP1BA) ENSP00000484439.1:p.Val459Ile
NM_000173.6:c.1453G>A (GP1BA) NP_000164.5:p.Val485Ile
NM_000173.7:c.1453G>A (GP1BA) MANE Select NP_000164.5:p.Val485Ile