Canonical Allele Identifier: CA116659
Gene: GP1BA HGNC NCBI
CHRNE HGNC NCBI

Linked Data

ClinVar Variation Id: 4153
ClinVar RCV Id: RCV000004370
dbSNP Id: rs121908062
gnomAD v4: 17-4933350-G-T
MyVariant Identifiers: chr17:g.4836645G>T (hg19) chr17:g.4933350G>T (hg38)
PubMed: PMID:2052556 PMID:8486780
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4933350G>T , CM000679.2:g.4933350G>T GRCh38
NC_000017.10:g.4836645G>T , CM000679.1:g.4836645G>T GRCh37
NC_000017.9:g.4777425G>T NCBI36
NG_008767.2:g.6056G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000329125.6:c.746G>T (GP1BA) MANE Select ENSP00000329380.5:p.Gly249Val
ENST00000649830.1:c.-888+992C>A (CHRNE) ENSP00000496907.1:n.-888+992C>A
ENST00000329125.5:c.746G>T (GP1BA) ENSP00000329380.5:p.Gly249Val
ENST00000611961.1:c.746G>T (GP1BA) ENSP00000484439.1:p.Gly249Val
NM_000173.6:c.746G>T (GP1BA) NP_000164.5:p.Gly249Val
NM_000173.7:c.746G>T (GP1BA) MANE Select NP_000164.5:p.Gly249Val
Search 100 bp 5'
Search 100 bp 3'