Canonical Allele Identifier: CA417960648

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55529128A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063455A>T , CM000663.2:g.55063455A>T	GRCh38
NC_000001.10:g.55529128A>T , CM000663.1:g.55529128A>T	GRCh37
NC_000001.9:g.55301716A>T	NCBI36
NG_009061.1:g.28909A>T , LRG_275:g.28909A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*290A>T	ENSP00000501161.2:n.*290A>T
ENST00000710286.1:c.2307A>T	ENSP00000518176.1:p.Val769=
ENST00000673903.1:c.1575A>T	ENSP00000501257.1:p.Val525=
ENST00000673913.1:c.800A>T	ENSP00000501161.1:n.800A>T
ENST00000302118.5:c.1950A>T MANE Select	ENSP00000303208.5:p.Val650=
ENST00000490692.1:n.2496A>T
NM_174936.3:c.1950A>T , LRG_275t1:c.1950A>T	NP_777596.2:p.Val650=
NR_110451.1:n.1557A>T
XM_011541193.1:c.1071A>T	XP_011539495.1:p.Val357=
NM_174936.4:c.1950A>T MANE Select	NP_777596.2:p.Val650=
NR_110451.2:n.1557A>T