Canonical Allele Identifier: CA624623397
Gene: GP1BA HGNC NCBI
CHRNE HGNC NCBI

Linked Data

dbSNP Id: rs1181942586
gnomAD v2: 17-4835652-T-C
gnomAD v3: 17-4932357-T-C
gnomAD v4: 17-4932357-T-C
MyVariant Identifiers: chr17:g.4835652T>C (hg19) chr17:g.4932357T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4932357T>C , CM000679.2:g.4932357T>C GRCh38
NC_000017.10:g.4835652T>C , CM000679.1:g.4835652T>C GRCh37
NC_000017.9:g.4776432T>C NCBI36
NG_008767.2:g.5063T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.-15T>C (GP1BA) MANE Select ENSP00000329380.5:n.-15T>C
ENST00000649830.1:c.-888+1985A>G (CHRNE) ENSP00000496907.1:n.-888+1985A>G
ENST00000329125.5:c.-15T>C (GP1BA) ENSP00000329380.5:n.-15T>C
ENST00000611961.1:c.-15T>C (GP1BA) ENSP00000484439.1:n.-15T>C
NM_000173.6:c.-15T>C (GP1BA) NP_000164.5:n.-15T>C
NM_000173.7:c.-15T>C (GP1BA) MANE Select NP_000164.5:n.-15T>C
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