Canonical Allele Identifier: CA397318410
Gene: GP1BA HGNC NCBI
CHRNE HGNC NCBI

Linked Data

ClinVar Variation Id: 1677263
ClinVar RCV Id: RCV002223114
dbSNP Id: rs121908062
gnomAD v4: 17-4933350-G-A
MyVariant Identifiers: chr17:g.4836645G>A (hg19) chr17:g.4933350G>A (hg38)
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000329125.6:c.746G>A (GP1BA) MANE Select ENSP00000329380.5:p.Gly249Asp
ENST00000649830.1:c.-888+992C>T (CHRNE) ENSP00000496907.1:n.-888+992C>T
ENST00000329125.5:c.746G>A (GP1BA) ENSP00000329380.5:p.Gly249Asp
ENST00000611961.1:c.746G>A (GP1BA) ENSP00000484439.1:p.Gly249Asp
NM_000173.6:c.746G>A (GP1BA) NP_000164.5:p.Gly249Asp
NM_000173.7:c.746G>A (GP1BA) MANE Select NP_000164.5:p.Gly249Asp
Search 100 bp 5'
Search 100 bp 3'