Canonical Allele Identifier: CA036173

Gene: PCSK9

Linked Data

• ClinVar Variation Id: 536213
• ClinVar RCV Id: RCV000644551 ; RCV000775255 ; RCV002449033
• dbSNP Id: rs374142123
• ExAC: 1:55505636 G / T
• gnomAD v2: 1-55505636-G-T
• gnomAD v3: 1-55039963-G-T
• gnomAD v4: 1-55039963-G-T
• MyVariant Identifiers: chr1:g.55505636G>T (hg19) ; chr1:g.55039963G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55039963G>T , CM000663.2:g.55039963G>T	GRCh38
NC_000001.10:g.55505636G>T , CM000663.1:g.55505636G>T	GRCh37
NC_000001.9:g.55278224G>T	NCBI36
NG_009061.1:g.5417G>T , LRG_275:g.5417G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.126G>T	ENSP00000501161.2:p.Val42=
ENST00000710286.1:c.483G>T	ENSP00000518176.1:p.Val161=
ENST00000673726.1:c.126G>T	ENSP00000501004.1:p.Val42=
ENST00000302118.5:c.126G>T MANE Select	ENSP00000303208.5:p.Val42=
NM_174936.3:c.126G>T , LRG_275t1:c.126G>T	NP_777596.2:p.Val42=
NM_174936.4:c.126G>T MANE Select	NP_777596.2:p.Val42=