Canonical Allele Identifier: CA041172

Gene: PCSK9

Linked Data

• ClinVar Variation Id: 1564848
• ClinVar RCV Id: RCV002212928 ; RCV002441296
• dbSNP Id: rs562480265
• ExAC: 1:55505537 C / T
• gnomAD v2: 1-55505537-C-T
• gnomAD v3: 1-55039864-C-T
• gnomAD v4: 1-55039864-C-T
• MyVariant Identifiers: chr1:g.55505537C>T (hg19) ; chr1:g.55039864C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55039864C>T , CM000663.2:g.55039864C>T	GRCh38
NC_000001.10:g.55505537C>T , CM000663.1:g.55505537C>T	GRCh37
NC_000001.9:g.55278125C>T	NCBI36
NG_009061.1:g.5318C>T , LRG_275:g.5318C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.27C>T	ENSP00000501161.2:p.Ser9=
ENST00000710286.1:c.384C>T	ENSP00000518176.1:p.Ser128=
ENST00000673726.1:c.27C>T	ENSP00000501004.1:p.Ser9=
ENST00000302118.5:c.27C>T MANE Select	ENSP00000303208.5:p.Ser9=
NM_174936.3:c.27C>T , LRG_275t1:c.27C>T	NP_777596.2:p.Ser9=
NM_174936.4:c.27C>T MANE Select	NP_777596.2:p.Ser9=