Canonical Allele Identifier: CA22791310

Gene: PCSK9

Linked Data

• dbSNP Id: rs1055938771
• gnomAD v3: 1-55039526-C-T
• gnomAD v4: 1-55039526-C-T
• MyVariant Identifiers: chr1:g.55505199C>T (hg19) ; chr1:g.55039526C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55039526C>T , CM000663.2:g.55039526C>T	GRCh38
NC_000001.10:g.55505199C>T , CM000663.1:g.55505199C>T	GRCh37
NC_000001.9:g.55277787C>T	NCBI36
NG_009061.1:g.4980C>T , LRG_275:g.4980C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000673913.2:c.-312C>T	ENSP00000501161.2:n.-312C>T
ENST00000710286.1:c.46C>T	ENSP00000518176.1:p.Pro16Ser
ENST00000673726.1:c.-312C>T	ENSP00000501004.1:n.-312C>T
NM_174936.3:c.-312C>T , LRG_275t1:c.-312C>T	NP_777596.2:n.-312C>T