Canonical Allele Identifier: CA397319491

Gene: GP1BA CHRNE

Linked Data

• dbSNP Id: rs1377230296
• gnomAD v2: 17-4836888-C-T
• gnomAD v4: 17-4933593-C-T
• MyVariant Identifiers: chr17:g.4836888C>T (hg19) ; chr17:g.4933593C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4933593C>T , CM000679.2:g.4933593C>T	GRCh38
NC_000017.10:g.4836888C>T , CM000679.1:g.4836888C>T	GRCh37
NC_000017.9:g.4777668C>T	NCBI36
NG_008767.2:g.6299C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000329125.6:c.989C>T (GP1BA) MANE Select	ENSP00000329380.5:p.Ser330Phe
ENST00000649830.1:c.-888+749G>A (CHRNE)	ENSP00000496907.1:n.-888+749G>A
ENST00000329125.5:c.989C>T (GP1BA)	ENSP00000329380.5:p.Ser330Phe
ENST00000611961.1:c.989C>T (GP1BA)	ENSP00000484439.1:p.Ser330Phe
NM_000173.6:c.989C>T (GP1BA)	NP_000164.5:p.Ser330Phe
NM_000173.7:c.989C>T (GP1BA) MANE Select	NP_000164.5:p.Ser330Phe