Canonical Allele Identifier: CA287217310
Gene: GP1BA HGNC NCBI
CHRNE HGNC NCBI

Linked Data

dbSNP Id: rs553749201
gnomAD v2: 17-4837195-C-A
gnomAD v4: 17-4933900-C-A
MyVariant Identifiers: chr17:g.4837195C>A (hg19) chr17:g.4933900C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4933900C>A , CM000679.2:g.4933900C>A GRCh38
NC_000017.10:g.4837195C>A , CM000679.1:g.4837195C>A GRCh37
NG_008767.2:g.6606C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.1296C>A (GP1BA) MANE Select ENSP00000329380.5:p.Pro432=
ENST00000649830.1:c.-888+442G>T (CHRNE) ENSP00000496907.1:n.-888+442G>T
ENST00000329125.5:c.1296C>A (GP1BA) ENSP00000329380.5:p.Pro432=
ENST00000611961.1:c.1272+24C>A (GP1BA) ENSP00000484439.1:n.1272+24C>A
NM_000173.6:c.1296C>A (GP1BA) NP_000164.5:p.Pro432=
NM_000173.7:c.1296C>A (GP1BA) MANE Select NP_000164.5:p.Pro432=
Search 100 bp 5'
Search 100 bp 3'