Canonical Allele Identifier: CA340480436

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55527186A>C (hg19) ; chr1:g.55061513A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061513A>C , CM000663.2:g.55061513A>C	GRCh38
NC_000001.10:g.55527186A>C , CM000663.1:g.55527186A>C	GRCh37
NC_000001.9:g.55299774A>C	NCBI36
NG_009061.1:g.26967A>C , LRG_275:g.26967A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*160A>C	ENSP00000501161.2:n.*160A>C
ENST00000710286.1:c.2177A>C	ENSP00000518176.1:p.Glu726Ala
ENST00000673903.1:c.1445A>C	ENSP00000501257.1:p.Glu482Ala
ENST00000673913.1:c.670A>C	ENSP00000501161.1:n.670A>C
ENST00000302118.5:c.1820A>C MANE Select	ENSP00000303208.5:p.Glu607Ala
ENST00000490692.1:n.2366A>C
NM_174936.3:c.1820A>C , LRG_275t1:c.1820A>C	NP_777596.2:p.Glu607Ala
NR_110451.1:n.1427A>C
XM_011541193.1:c.941A>C	XP_011539495.1:p.Glu314Ala
NM_174936.4:c.1820A>C MANE Select	NP_777596.2:p.Glu607Ala
NR_110451.2:n.1427A>C