Canonical Allele Identifier: CA417960689

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55529197A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063524A>C , CM000663.2:g.55063524A>C	GRCh38
NC_000001.10:g.55529197A>C , CM000663.1:g.55529197A>C	GRCh37
NC_000001.9:g.55301785A>C	NCBI36
NG_009061.1:g.28978A>C , LRG_275:g.28978A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*359A>C	ENSP00000501161.2:n.*359A>C
ENST00000710286.1:c.2376A>C	ENSP00000518176.1:p.Thr792=
ENST00000673903.1:c.1644A>C	ENSP00000501257.1:p.Thr548=
ENST00000673913.1:c.869A>C	ENSP00000501161.1:n.869A>C
ENST00000302118.5:c.2019A>C MANE Select	ENSP00000303208.5:p.Thr673=
ENST00000490692.1:n.2565A>C
NM_174936.3:c.2019A>C , LRG_275t1:c.2019A>C	NP_777596.2:p.Thr673=
NR_110451.1:n.1626A>C
XM_011541193.1:c.1140A>C	XP_011539495.1:p.Thr380=
NM_174936.4:c.2019A>C MANE Select	NP_777596.2:p.Thr673=
NR_110451.2:n.1626A>C