Canonical Allele Identifier: CA040909

Gene: PCSK9

Linked Data

• ClinVar Variation Id: 633348
• ClinVar RCV Id: RCV000781706
• dbSNP Id: rs376554821
• ExAC: 1:55509536 C / T
• gnomAD v2: 1-55509536-C-T
• gnomAD v3: 1-55043863-C-T
• gnomAD v4: 1-55043863-C-T
• MyVariant Identifiers: chr1:g.55509536C>T (hg19) ; chr1:g.55043863C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55043863C>T , CM000663.2:g.55043863C>T	GRCh38
NC_000001.10:g.55509536C>T , CM000663.1:g.55509536C>T	GRCh37
NC_000001.9:g.55282124C>T	NCBI36
NG_009061.1:g.9317C>T , LRG_275:g.9317C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000673913.2:c.228C>T	ENSP00000501161.2:p.Gly76=
ENST00000710286.1:c.585C>T	ENSP00000518176.1:p.Gly195=
ENST00000673726.1:c.228C>T	ENSP00000501004.1:p.Gly76=
ENST00000673903.1:c.-148C>T	ENSP00000501257.1:n.-148C>T
ENST00000302118.5:c.228C>T MANE Select	ENSP00000303208.5:p.Gly76=
NM_174936.3:c.228C>T , LRG_275t1:c.228C>T	NP_777596.2:p.Gly76=
NR_110451.1:n.182+3460C>T
NM_174936.4:c.228C>T MANE Select	NP_777596.2:p.Gly76=
NR_110451.2:n.182+3460C>T