Canonical Allele Identifier: CA040073

Gene: PCSK9

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063483G>A , CM000663.2:g.55063483G>A	GRCh38
NC_000001.10:g.55529156G>A , CM000663.1:g.55529156G>A	GRCh37
NC_000001.9:g.55301744G>A	NCBI36
NG_009061.1:g.28937G>A , LRG_275:g.28937G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_174936.4:c.1978G>A MANE Select	NP_777596.2:p.Asp660Asn
ENST00000302118.5:c.1978G>A MANE Select	ENSP00000303208.5:p.Asp660Asn
NM_174936.3:c.1978G>A , LRG_275t1:c.1978G>A	NP_777596.2:p.Asp660Asn
NR_110451.1:n.1585G>A
NR_110451.2:n.1585G>A
ENST00000490692.1:n.2524G>A
ENST00000673903.1:c.1603G>A	ENSP00000501257.1:p.Asp535Asn
ENST00000673913.1:c.828G>A	ENSP00000501161.1:n.828G>A
ENST00000673913.2:c.*318G>A	ENSP00000501161.2:n.*318G>A
ENST00000710286.1:c.2335G>A	ENSP00000518176.1:p.Asp779Asn
XM_011541193.1:c.1099G>A	XP_011539495.1:p.Asp367Asn