Canonical Allele Identifier: CA397314537
Gene: GP1BA HGNC NCBI
CHRNE HGNC NCBI

Linked Data

dbSNP Id: rs1392844165
gnomAD v2: 17-4836030-A-C
gnomAD v4: 17-4932735-A-C
MyVariant Identifiers: chr17:g.4836030A>C (hg19) chr17:g.4932735A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4932735A>C , CM000679.2:g.4932735A>C GRCh38
NC_000017.10:g.4836030A>C , CM000679.1:g.4836030A>C GRCh37
NC_000017.9:g.4776810A>C NCBI36
NG_008767.2:g.5441A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000329125.6:c.131A>C (GP1BA) MANE Select ENSP00000329380.5:p.Asp44Ala
ENST00000649830.1:c.-888+1607T>G (CHRNE) ENSP00000496907.1:n.-888+1607T>G
ENST00000329125.5:c.131A>C (GP1BA) ENSP00000329380.5:p.Asp44Ala
ENST00000611961.1:c.131A>C (GP1BA) ENSP00000484439.1:p.Asp44Ala
NM_000173.6:c.131A>C (GP1BA) NP_000164.5:p.Asp44Ala
NM_000173.7:c.131A>C (GP1BA) MANE Select NP_000164.5:p.Asp44Ala
Search 100 bp 5'
Search 100 bp 3'