Canonical Allele Identifier: CA417960673

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55529170A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063497A>G , CM000663.2:g.55063497A>G	GRCh38
NC_000001.10:g.55529170A>G , CM000663.1:g.55529170A>G	GRCh37
NC_000001.9:g.55301758A>G	NCBI36
NG_009061.1:g.28951A>G , LRG_275:g.28951A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*332A>G	ENSP00000501161.2:n.*332A>G
ENST00000710286.1:c.2349A>G	ENSP00000518176.1:p.Thr783=
ENST00000673903.1:c.1617A>G	ENSP00000501257.1:p.Thr539=
ENST00000673913.1:c.842A>G	ENSP00000501161.1:n.842A>G
ENST00000302118.5:c.1992A>G MANE Select	ENSP00000303208.5:p.Thr664=
ENST00000490692.1:n.2538A>G
NM_174936.3:c.1992A>G , LRG_275t1:c.1992A>G	NP_777596.2:p.Thr664=
NR_110451.1:n.1599A>G
XM_011541193.1:c.1113A>G	XP_011539495.1:p.Thr371=
NM_174936.4:c.1992A>G MANE Select	NP_777596.2:p.Thr664=
NR_110451.2:n.1599A>G