Canonical Allele Identifier: CA340480648

Gene: PCSK9

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000673913.2:c.*253T>G	ENSP00000501161.2:n.*253T>G
ENST00000710286.1:c.2270T>G	ENSP00000518176.1:p.Leu757Arg
ENST00000673903.1:c.1538T>G	ENSP00000501257.1:p.Leu513Arg
ENST00000673913.1:c.763T>G	ENSP00000501161.1:n.763T>G
ENST00000302118.5:c.1913T>G MANE Select	ENSP00000303208.5:p.Leu638Arg
ENST00000490692.1:n.2459T>G
NM_174936.3:c.1913T>G , LRG_275t1:c.1913T>G	NP_777596.2:p.Leu638Arg
NR_110451.1:n.1520T>G
XM_011541193.1:c.1034T>G	XP_011539495.1:p.Leu345Arg
NM_174936.4:c.1913T>G MANE Select	NP_777596.2:p.Leu638Arg
NR_110451.2:n.1520T>G