Canonical Allele Identifier: CA340479816

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55059540-G-A
• MyVariant Identifiers: chr1:g.55525213G>A (hg19) ; chr1:g.55059540G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059540G>A , CM000663.2:g.55059540G>A	GRCh38
NC_000001.10:g.55525213G>A , CM000663.1:g.55525213G>A	GRCh37
NC_000001.9:g.55297801G>A	NCBI36
NG_009061.1:g.24994G>A , LRG_275:g.24994G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1558G>A	ENSP00000501161.2:p.Val520Ile
ENST00000710286.1:c.1915G>A	ENSP00000518176.1:p.Val639Ile
ENST00000673903.1:c.1183G>A	ENSP00000501257.1:p.Val395Ile
ENST00000673913.1:c.298G>A	ENSP00000501161.1:p.Val100Ile
ENST00000302118.5:c.1558G>A MANE Select	ENSP00000303208.5:p.Val520Ile
ENST00000490692.1:n.2227+893G>A
NM_174936.3:c.1558G>A , LRG_275t1:c.1558G>A	NP_777596.2:p.Val520Ile
NR_110451.1:n.1165G>A
XM_011541193.1:c.679G>A	XP_011539495.1:p.Val227Ile
NM_174936.4:c.1558G>A MANE Select	NP_777596.2:p.Val520Ile
NR_110451.2:n.1165G>A