Canonical Allele Identifier: CA340480646

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55529091T>A (hg19) ; chr1:g.55063418T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063418T>A , CM000663.2:g.55063418T>A	GRCh38
NC_000001.10:g.55529091T>A , CM000663.1:g.55529091T>A	GRCh37
NC_000001.9:g.55301679T>A	NCBI36
NG_009061.1:g.28872T>A , LRG_275:g.28872T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000673913.2:c.*253T>A	ENSP00000501161.2:n.*253T>A
ENST00000710286.1:c.2270T>A	ENSP00000518176.1:p.Leu757His
ENST00000673903.1:c.1538T>A	ENSP00000501257.1:p.Leu513His
ENST00000673913.1:c.763T>A	ENSP00000501161.1:n.763T>A
ENST00000302118.5:c.1913T>A MANE Select	ENSP00000303208.5:p.Leu638His
ENST00000490692.1:n.2459T>A
NM_174936.3:c.1913T>A , LRG_275t1:c.1913T>A	NP_777596.2:p.Leu638His
NR_110451.1:n.1520T>A
XM_011541193.1:c.1034T>A	XP_011539495.1:p.Leu345His
NM_174936.4:c.1913T>A MANE Select	NP_777596.2:p.Leu638His
NR_110451.2:n.1520T>A