Canonical Allele Identifier: CA340483873

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55509699C>A (hg19) ; chr1:g.55044026C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55044026C>A , CM000663.2:g.55044026C>A	GRCh38
NC_000001.10:g.55509699C>A , CM000663.1:g.55509699C>A	GRCh37
NC_000001.9:g.55282287C>A	NCBI36
NG_009061.1:g.9480C>A , LRG_275:g.9480C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.391C>A	ENSP00000501161.2:p.Leu131Met
ENST00000710286.1:c.748C>A	ENSP00000518176.1:p.Leu250Met
ENST00000673662.1:n.61C>A
ENST00000673726.1:c.391C>A	ENSP00000501004.1:p.Leu131Met
ENST00000673903.1:c.16C>A	ENSP00000501257.1:p.Leu6Met
ENST00000302118.5:c.391C>A MANE Select	ENSP00000303208.5:p.Leu131Met
NM_174936.3:c.391C>A , LRG_275t1:c.391C>A	NP_777596.2:p.Leu131Met
NR_110451.1:n.182+3623C>A
NM_174936.4:c.391C>A MANE Select	NP_777596.2:p.Leu131Met
NR_110451.2:n.182+3623C>A