Canonical Allele Identifier: CA397314347
Gene: GP1BA HGNC NCBI
CHRNE HGNC NCBI

Linked Data

ClinVar Variation Id: 627167
ClinVar RCV Id: RCV000851923
dbSNP Id: rs1597638300
MyVariant Identifiers: chr17:g.4835997G>C (hg19) chr17:g.4932702G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4932702G>C , CM000679.2:g.4932702G>C GRCh38
NC_000017.10:g.4835997G>C , CM000679.1:g.4835997G>C GRCh37
NC_000017.9:g.4776777G>C NCBI36
NG_008767.2:g.5408G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.98G>C (GP1BA) MANE Select ENSP00000329380.5:p.Cys33Ser
ENST00000649830.1:c.-888+1640C>G (CHRNE) ENSP00000496907.1:n.-888+1640C>G
ENST00000329125.5:c.98G>C (GP1BA) ENSP00000329380.5:p.Cys33Ser
ENST00000611961.1:c.98G>C (GP1BA) ENSP00000484439.1:p.Cys33Ser
NM_000173.6:c.98G>C (GP1BA) NP_000164.5:p.Cys33Ser
NM_000173.7:c.98G>C (GP1BA) MANE Select NP_000164.5:p.Cys33Ser
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