Canonical Allele Identifier: CA340480457

Gene: PCSK9

Linked Data

• dbSNP Id: rs2100337747
• gnomAD v4: 1-55061521-G-A
• MyVariant Identifiers: chr1:g.55527194G>A (hg19) ; chr1:g.55061521G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061521G>A , CM000663.2:g.55061521G>A	GRCh38
NC_000001.10:g.55527194G>A , CM000663.1:g.55527194G>A	GRCh37
NC_000001.9:g.55299782G>A	NCBI36
NG_009061.1:g.26975G>A , LRG_275:g.26975G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*168G>A	ENSP00000501161.2:n.*168G>A
ENST00000710286.1:c.2185G>A	ENSP00000518176.1:p.Val729Ile
ENST00000673903.1:c.1453G>A	ENSP00000501257.1:p.Val485Ile
ENST00000673913.1:c.678G>A	ENSP00000501161.1:n.678G>A
ENST00000302118.5:c.1828G>A MANE Select	ENSP00000303208.5:p.Val610Ile
ENST00000490692.1:n.2374G>A
NM_174936.3:c.1828G>A , LRG_275t1:c.1828G>A	NP_777596.2:p.Val610Ile
NR_110451.1:n.1435G>A
XM_011541193.1:c.949G>A	XP_011539495.1:p.Val317Ile
NM_174936.4:c.1828G>A MANE Select	NP_777596.2:p.Val610Ile
NR_110451.2:n.1435G>A