Canonical Allele Identifier: CA340482674

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55505557T>G (hg19) ; chr1:g.55039884T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55039884T>G , CM000663.2:g.55039884T>G	GRCh38
NC_000001.10:g.55505557T>G , CM000663.1:g.55505557T>G	GRCh37
NC_000001.9:g.55278145T>G	NCBI36
NG_009061.1:g.5338T>G , LRG_275:g.5338T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.47T>G	ENSP00000501161.2:p.Leu16Arg
ENST00000710286.1:c.404T>G	ENSP00000518176.1:p.Leu135Arg
ENST00000673726.1:c.47T>G	ENSP00000501004.1:p.Leu16Arg
ENST00000302118.5:c.47T>G MANE Select	ENSP00000303208.5:p.Leu16Arg
NM_174936.3:c.47T>G , LRG_275t1:c.47T>G	NP_777596.2:p.Leu16Arg
NM_174936.4:c.47T>G MANE Select	NP_777596.2:p.Leu16Arg