Canonical Allele Identifier: CA340480695

Gene: PCSK9

Linked Data

• COSMIC: COSM3491053
• MyVariant Identifiers: chr1:g.55529118C>T (hg19) ; chr1:g.55063445C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063445C>T , CM000663.2:g.55063445C>T	GRCh38
NC_000001.10:g.55529118C>T , CM000663.1:g.55529118C>T	GRCh37
NC_000001.9:g.55301706C>T	NCBI36
NG_009061.1:g.28899C>T , LRG_275:g.28899C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*280C>T	ENSP00000501161.2:n.*280C>T
ENST00000710286.1:c.2297C>T	ENSP00000518176.1:p.Ala766Val
ENST00000673903.1:c.1565C>T	ENSP00000501257.1:p.Ala522Val
ENST00000673913.1:c.790C>T	ENSP00000501161.1:n.790C>T
ENST00000302118.5:c.1940C>T MANE Select	ENSP00000303208.5:p.Ala647Val
ENST00000490692.1:n.2486C>T
NM_174936.3:c.1940C>T , LRG_275t1:c.1940C>T	NP_777596.2:p.Ala647Val
NR_110451.1:n.1547C>T
XM_011541193.1:c.1061C>T	XP_011539495.1:p.Ala354Val
NM_174936.4:c.1940C>T MANE Select	NP_777596.2:p.Ala647Val
NR_110451.2:n.1547C>T