Canonical Allele Identifier: CA8314695

Gene: GP1BA CHRNE

Linked Data

• ClinVar Variation Id: 255462
• ClinVar RCV Id: RCV000250597 ; RCV002494699 ; RCV003409373
• dbSNP Id: rs111292798
• ExAC: 17:4836005 A / G
• gnomAD v2: 17-4836005-A-G
• gnomAD v3: 17-4932710-A-G
• gnomAD v4: 17-4932710-A-G
• MyVariant Identifiers: chr17:g.4836005A>G (hg19) ; chr17:g.4932710A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4932710A>G , CM000679.2:g.4932710A>G	GRCh38
NC_000017.10:g.4836005A>G , CM000679.1:g.4836005A>G	GRCh37
NC_000017.9:g.4776785A>G	NCBI36
NG_008767.2:g.5416A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329125.6:c.106A>G (GP1BA) MANE Select	ENSP00000329380.5:p.Arg36Gly
ENST00000649830.1:c.-888+1632T>C (CHRNE)	ENSP00000496907.1:n.-888+1632T>C
ENST00000329125.5:c.106A>G (GP1BA)	ENSP00000329380.5:p.Arg36Gly
ENST00000611961.1:c.106A>G (GP1BA)	ENSP00000484439.1:p.Arg36Gly
NM_000173.6:c.106A>G (GP1BA)	NP_000164.5:p.Arg36Gly
NM_000173.7:c.106A>G (GP1BA) MANE Select	NP_000164.5:p.Arg36Gly