Canonical Allele Identifier: CA417960669

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55529167T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063494T>A , CM000663.2:g.55063494T>A	GRCh38
NC_000001.10:g.55529167T>A , CM000663.1:g.55529167T>A	GRCh37
NC_000001.9:g.55301755T>A	NCBI36
NG_009061.1:g.28948T>A , LRG_275:g.28948T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*329T>A	ENSP00000501161.2:n.*329T>A
ENST00000710286.1:c.2346T>A	ENSP00000518176.1:p.Thr782=
ENST00000673903.1:c.1614T>A	ENSP00000501257.1:p.Thr538=
ENST00000673913.1:c.839T>A	ENSP00000501161.1:n.839T>A
ENST00000302118.5:c.1989T>A MANE Select	ENSP00000303208.5:p.Thr663=
ENST00000490692.1:n.2535T>A
NM_174936.3:c.1989T>A , LRG_275t1:c.1989T>A	NP_777596.2:p.Thr663=
NR_110451.1:n.1596T>A
XM_011541193.1:c.1110T>A	XP_011539495.1:p.Thr370=
NM_174936.4:c.1989T>A MANE Select	NP_777596.2:p.Thr663=
NR_110451.2:n.1596T>A