Canonical Allele Identifier: CA036861

Gene: PCSK9

Linked Data

• ClinVar Variation Id: 1644656
• ClinVar RCV Id: RCV002140711
• dbSNP Id: rs775278198
• ExAC: 1:55524236 C / T
• gnomAD v2: 1-55524236-C-T
• gnomAD v4: 1-55058563-C-T
• MyVariant Identifiers: chr1:g.55524236C>T (hg19) ; chr1:g.55058563C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55058563C>T , CM000663.2:g.55058563C>T	GRCh38
NC_000001.10:g.55524236C>T , CM000663.1:g.55524236C>T	GRCh37
NC_000001.9:g.55296824C>T	NCBI36
NG_009061.1:g.24017C>T , LRG_275:g.24017C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1419C>T	ENSP00000501161.2:p.Ala473=
ENST00000710286.1:c.1776C>T	ENSP00000518176.1:p.Ala592=
ENST00000673903.1:c.1044C>T	ENSP00000501257.1:p.Ala348=
ENST00000673913.1:c.159C>T	ENSP00000501161.1:p.Ala53=
ENST00000302118.5:c.1419C>T MANE Select	ENSP00000303208.5:p.Ala473=
ENST00000490692.1:n.2143C>T
NM_174936.3:c.1419C>T , LRG_275t1:c.1419C>T	NP_777596.2:p.Ala473=
NR_110451.1:n.1026C>T
XM_011541193.1:c.540C>T	XP_011539495.1:p.Ala180=
NM_174936.4:c.1419C>T MANE Select	NP_777596.2:p.Ala473=
NR_110451.2:n.1026C>T