Canonical Allele Identifier: CA036722

Gene: PCSK9

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55058528T>C , CM000663.2:g.55058528T>C	GRCh38
NC_000001.10:g.55524201T>C , CM000663.1:g.55524201T>C	GRCh37
NC_000001.9:g.55296789T>C	NCBI36
NG_009061.1:g.23982T>C , LRG_275:g.23982T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_174936.4:c.1384T>C MANE Select	NP_777596.2:p.Ser462Pro
ENST00000302118.5:c.1384T>C MANE Select	ENSP00000303208.5:p.Ser462Pro
NM_174936.3:c.1384T>C , LRG_275t1:c.1384T>C	NP_777596.2:p.Ser462Pro
NR_110451.1:n.991T>C
NR_110451.2:n.991T>C
ENST00000490692.1:n.2108T>C
ENST00000673903.1:c.1009T>C	ENSP00000501257.1:p.Ser337Pro
ENST00000673913.1:c.124T>C	ENSP00000501161.1:p.Ser42Pro
ENST00000673913.2:c.1384T>C	ENSP00000501161.2:p.Ser462Pro
ENST00000710286.1:c.1741T>C	ENSP00000518176.1:p.Ser581Pro
XM_011541193.1:c.505T>C	XP_011539495.1:p.Ser169Pro