Canonical Allele Identifier: CA340480846

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55529198G>A (hg19) ; chr1:g.55063525G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063525G>A , CM000663.2:g.55063525G>A	GRCh38
NC_000001.10:g.55529198G>A , CM000663.1:g.55529198G>A	GRCh37
NC_000001.9:g.55301786G>A	NCBI36
NG_009061.1:g.28979G>A , LRG_275:g.28979G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*360G>A	ENSP00000501161.2:n.*360G>A
ENST00000710286.1:c.2377G>A	ENSP00000518176.1:p.Ala793Thr
ENST00000673903.1:c.1645G>A	ENSP00000501257.1:p.Ala549Thr
ENST00000673913.1:c.870G>A	ENSP00000501161.1:n.870G>A
ENST00000302118.5:c.2020G>A MANE Select	ENSP00000303208.5:p.Ala674Thr
ENST00000490692.1:n.2566G>A
NM_174936.3:c.2020G>A , LRG_275t1:c.2020G>A	NP_777596.2:p.Ala674Thr
NR_110451.1:n.1627G>A
XM_011541193.1:c.1141G>A	XP_011539495.1:p.Ala381Thr
NM_174936.4:c.2020G>A MANE Select	NP_777596.2:p.Ala674Thr
NR_110451.2:n.1627G>A