Canonical Allele Identifier: CA8315000

Gene: GP1BA CHRNE

Linked Data

• dbSNP Id: rs755360664
• ExAC: 17:4837352 G / A
• gnomAD v2: 17-4837352-G-A
• gnomAD v3: 17-4934057-G-A
• gnomAD v4: 17-4934057-G-A
• COSMIC: COSM1384474
• MyVariant Identifiers: chr17:g.4837352G>A (hg19) ; chr17:g.4934057G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4934057G>A , CM000679.2:g.4934057G>A	GRCh38
NC_000017.10:g.4837352G>A , CM000679.1:g.4837352G>A	GRCh37
NC_000017.9:g.4778093G>A	NCBI36
NG_008767.2:g.6763G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329125.6:c.1453G>A (GP1BA) MANE Select	ENSP00000329380.5:p.Val485Ile
ENST00000649830.1:c.-888+285C>T (CHRNE)	ENSP00000496907.1:n.-888+285C>T
ENST00000329125.5:c.1453G>A (GP1BA)	ENSP00000329380.5:p.Val485Ile
ENST00000611961.1:c.1375G>A (GP1BA)	ENSP00000484439.1:p.Val459Ile
NM_000173.6:c.1453G>A (GP1BA)	NP_000164.5:p.Val485Ile
NM_000173.7:c.1453G>A (GP1BA) MANE Select	NP_000164.5:p.Val485Ile