Canonical Allele Identifier: CA340480801

Gene: PCSK9

Linked Data

• COSMIC: COSM464790
• MyVariant Identifiers: chr1:g.55529175G>A (hg19) ; chr1:g.55063502G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063502G>A , CM000663.2:g.55063502G>A	GRCh38
NC_000001.10:g.55529175G>A , CM000663.1:g.55529175G>A	GRCh37
NC_000001.9:g.55301763G>A	NCBI36
NG_009061.1:g.28956G>A , LRG_275:g.28956G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*337G>A	ENSP00000501161.2:n.*337G>A
ENST00000710286.1:c.2354G>A	ENSP00000518176.1:p.Ser785Asn
ENST00000673903.1:c.1622G>A	ENSP00000501257.1:p.Ser541Asn
ENST00000673913.1:c.847G>A	ENSP00000501161.1:n.847G>A
ENST00000302118.5:c.1997G>A MANE Select	ENSP00000303208.5:p.Ser666Asn
ENST00000490692.1:n.2543G>A
NM_174936.3:c.1997G>A , LRG_275t1:c.1997G>A	NP_777596.2:p.Ser666Asn
NR_110451.1:n.1604G>A
XM_011541193.1:c.1118G>A	XP_011539495.1:p.Ser373Asn
NM_174936.4:c.1997G>A MANE Select	NP_777596.2:p.Ser666Asn
NR_110451.2:n.1604G>A