Canonical Allele Identifier: CA340480513

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55061548-C-A
• MyVariant Identifiers: chr1:g.55527221C>A (hg19) ; chr1:g.55061548C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061548C>A , CM000663.2:g.55061548C>A	GRCh38
NC_000001.10:g.55527221C>A , CM000663.1:g.55527221C>A	GRCh37
NC_000001.9:g.55299809C>A	NCBI36
NG_009061.1:g.27002C>A , LRG_275:g.27002C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*195C>A	ENSP00000501161.2:n.*195C>A
ENST00000710286.1:c.2212C>A	ENSP00000518176.1:p.Gln738Lys
ENST00000673903.1:c.1480C>A	ENSP00000501257.1:p.Gln494Lys
ENST00000673913.1:c.705C>A	ENSP00000501161.1:n.705C>A
ENST00000302118.5:c.1855C>A MANE Select	ENSP00000303208.5:p.Gln619Lys
ENST00000490692.1:n.2401C>A
NM_174936.3:c.1855C>A , LRG_275t1:c.1855C>A	NP_777596.2:p.Gln619Lys
NR_110451.1:n.1462C>A
XM_011541193.1:c.976C>A	XP_011539495.1:p.Gln326Lys
NM_174936.4:c.1855C>A MANE Select	NP_777596.2:p.Gln619Lys
NR_110451.2:n.1462C>A