Canonical Allele Identifier: CA397315035
Gene: GP1BA HGNC NCBI
CHRNE HGNC NCBI

Linked Data

ClinVar Variation Id: 2629339
ClinVar RCV Id: RCV003414158
dbSNP Id: rs1244043365
gnomAD v2: 17-4836093-C-T
gnomAD v4: 17-4932798-C-T
MyVariant Identifiers: chr17:g.4836093C>T (hg19) chr17:g.4932798C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4932798C>T , CM000679.2:g.4932798C>T GRCh38
NC_000017.10:g.4836093C>T , CM000679.1:g.4836093C>T GRCh37
NC_000017.9:g.4776873C>T NCBI36
NG_008767.2:g.5504C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.194C>T (GP1BA) MANE Select ENSP00000329380.5:p.Ala65Val
ENST00000649830.1:c.-888+1544G>A (CHRNE) ENSP00000496907.1:n.-888+1544G>A
ENST00000329125.5:c.194C>T (GP1BA) ENSP00000329380.5:p.Ala65Val
ENST00000611961.1:c.194C>T (GP1BA) ENSP00000484439.1:p.Ala65Val
NM_000173.6:c.194C>T (GP1BA) NP_000164.5:p.Ala65Val
NM_000173.7:c.194C>T (GP1BA) MANE Select NP_000164.5:p.Ala65Val
Search 100 bp 5'
Search 100 bp 3'