Canonical Allele Identifier: CA340480023

Gene: PCSK9

Linked Data

• dbSNP Id: rs1644743496
• MyVariant Identifiers: chr1:g.55525288A>C (hg19) ; chr1:g.55059615A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059615A>C , CM000663.2:g.55059615A>C	GRCh38
NC_000001.10:g.55525288A>C , CM000663.1:g.55525288A>C	GRCh37
NC_000001.9:g.55297876A>C	NCBI36
NG_009061.1:g.25069A>C , LRG_275:g.25069A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1633A>C	ENSP00000501161.2:p.Ser545Arg
ENST00000710286.1:c.1990A>C	ENSP00000518176.1:p.Ser664Arg
ENST00000673903.1:c.1258A>C	ENSP00000501257.1:p.Ser420Arg
ENST00000673913.1:c.373A>C	ENSP00000501161.1:p.Ser125Arg
ENST00000302118.5:c.1633A>C MANE Select	ENSP00000303208.5:p.Ser545Arg
ENST00000490692.1:n.2227+968A>C
NM_174936.3:c.1633A>C , LRG_275t1:c.1633A>C	NP_777596.2:p.Ser545Arg
NR_110451.1:n.1240A>C
XM_011541193.1:c.754A>C	XP_011539495.1:p.Ser252Arg
NM_174936.4:c.1633A>C MANE Select	NP_777596.2:p.Ser545Arg
NR_110451.2:n.1240A>C