Canonical Allele Identifier: CA22791308

Gene: PCSK9

Linked Data

• dbSNP Id: rs745962158
• gnomAD v4: 1-55039517-G-A
• MyVariant Identifiers: chr1:g.55505190G>A (hg19) ; chr1:g.55039517G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55039517G>A , CM000663.2:g.55039517G>A	GRCh38
NC_000001.10:g.55505190G>A , CM000663.1:g.55505190G>A	GRCh37
NC_000001.9:g.55277778G>A	NCBI36
NG_009061.1:g.4971G>A , LRG_275:g.4971G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.-321G>A	ENSP00000501161.2:n.-321G>A
ENST00000710286.1:c.37G>A	ENSP00000518176.1:p.Val13Ile
ENST00000673726.1:c.-321G>A	ENSP00000501004.1:n.-321G>A
NM_174936.3:c.-321G>A , LRG_275t1:c.-321G>A	NP_777596.2:n.-321G>A