Canonical Allele Identifier: CA417960582

Gene: PCSK9

Linked Data

• ClinVar Variation Id: 797891
• ClinVar RCV Id: RCV000981373
• dbSNP Id: rs1570310183
• MyVariant Identifiers: chr1:g.55527226G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061553G>A , CM000663.2:g.55061553G>A	GRCh38
NC_000001.10:g.55527226G>A , CM000663.1:g.55527226G>A	GRCh37
NC_000001.9:g.55299814G>A	NCBI36
NG_009061.1:g.27007G>A , LRG_275:g.27007G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*200G>A	ENSP00000501161.2:n.*200G>A
ENST00000710286.1:c.2217G>A	ENSP00000518176.1:p.Glu739=
ENST00000673903.1:c.1485G>A	ENSP00000501257.1:p.Glu495=
ENST00000673913.1:c.710G>A	ENSP00000501161.1:n.710G>A
ENST00000302118.5:c.1860G>A MANE Select	ENSP00000303208.5:p.Glu620=
ENST00000490692.1:n.2406G>A
NM_174936.3:c.1860G>A , LRG_275t1:c.1860G>A	NP_777596.2:p.Glu620=
NR_110451.1:n.1467G>A
XM_011541193.1:c.981G>A	XP_011539495.1:p.Glu327=
NM_174936.4:c.1860G>A MANE Select	NP_777596.2:p.Glu620=
NR_110451.2:n.1467G>A