Canonical Allele Identifier: CA340480649

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55529093C>A (hg19) ; chr1:g.55063420C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063420C>A , CM000663.2:g.55063420C>A	GRCh38
NC_000001.10:g.55529093C>A , CM000663.1:g.55529093C>A	GRCh37
NC_000001.9:g.55301681C>A	NCBI36
NG_009061.1:g.28874C>A , LRG_275:g.28874C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000673913.2:c.*255C>A	ENSP00000501161.2:n.*255C>A
ENST00000710286.1:c.2272C>A	ENSP00000518176.1:p.Pro758Thr
ENST00000673903.1:c.1540C>A	ENSP00000501257.1:p.Pro514Thr
ENST00000673913.1:c.765C>A	ENSP00000501161.1:n.765C>A
ENST00000302118.5:c.1915C>A MANE Select	ENSP00000303208.5:p.Pro639Thr
ENST00000490692.1:n.2461C>A
NM_174936.3:c.1915C>A , LRG_275t1:c.1915C>A	NP_777596.2:p.Pro639Thr
NR_110451.1:n.1522C>A
XM_011541193.1:c.1036C>A	XP_011539495.1:p.Pro346Thr
NM_174936.4:c.1915C>A MANE Select	NP_777596.2:p.Pro639Thr
NR_110451.2:n.1522C>A