Canonical Allele Identifier: CA2598278138

Gene: PCSK9

Linked Data

• dbSNP Id: rs2100248142
• gnomAD v3: 1-55039501-T-A
• gnomAD v4: 1-55039501-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55039501T>A , CM000663.2:g.55039501T>A	GRCh38
NC_000001.10:g.55505174T>A , CM000663.1:g.55505174T>A	GRCh37
NC_000001.9:g.55277762T>A	NCBI36
NG_009061.1:g.4955T>A , LRG_275:g.4955T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.-337T>A	ENSP00000501161.2:n.-337T>A
ENST00000710286.1:c.21T>A	ENSP00000518176.1:p.Asp7Glu
ENST00000673726.1:c.-337T>A	ENSP00000501004.1:n.-337T>A
NM_174936.3:c.-337T>A , LRG_275t1:c.-337T>A	NP_777596.2:n.-337T>A