Canonical Allele Identifier: CA8314684

Gene: GP1BA CHRNE

Linked Data

• dbSNP Id: rs760705175
• ExAC: 17:4835948 C / A
• gnomAD v2: 17-4835948-C-A
• gnomAD v3: 17-4932653-C-A
• gnomAD v4: 17-4932653-C-A
• MyVariant Identifiers: chr17:g.4835948C>A (hg19) ; chr17:g.4932653C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4932653C>A , CM000679.2:g.4932653C>A	GRCh38
NC_000017.10:g.4835948C>A , CM000679.1:g.4835948C>A	GRCh37
NC_000017.9:g.4776728C>A	NCBI36
NG_008767.2:g.5359C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329125.6:c.49C>A (GP1BA) MANE Select	ENSP00000329380.5:p.His17Asn
ENST00000649830.1:c.-888+1689G>T (CHRNE)	ENSP00000496907.1:n.-888+1689G>T
ENST00000329125.5:c.49C>A (GP1BA)	ENSP00000329380.5:p.His17Asn
ENST00000611961.1:c.49C>A (GP1BA)	ENSP00000484439.1:p.His17Asn
NM_000173.6:c.49C>A (GP1BA)	NP_000164.5:p.His17Asn
NM_000173.7:c.49C>A (GP1BA) MANE Select	NP_000164.5:p.His17Asn