Canonical Allele Identifier: CA417960406

Gene: PCSK9

Linked Data

• dbSNP Id: rs1644743183
• gnomAD v4: 1-55059566-G-A
• MyVariant Identifiers: chr1:g.55525239G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059566G>A , CM000663.2:g.55059566G>A	GRCh38
NC_000001.10:g.55525239G>A , CM000663.1:g.55525239G>A	GRCh37
NC_000001.9:g.55297827G>A	NCBI36
NG_009061.1:g.25020G>A , LRG_275:g.25020G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1584G>A	ENSP00000501161.2:p.Leu528=
ENST00000710286.1:c.1941G>A	ENSP00000518176.1:p.Leu647=
ENST00000673903.1:c.1209G>A	ENSP00000501257.1:p.Leu403=
ENST00000673913.1:c.324G>A	ENSP00000501161.1:p.Leu108=
ENST00000302118.5:c.1584G>A MANE Select	ENSP00000303208.5:p.Leu528=
ENST00000490692.1:n.2227+919G>A
NM_174936.3:c.1584G>A , LRG_275t1:c.1584G>A	NP_777596.2:p.Leu528=
NR_110451.1:n.1191G>A
XM_011541193.1:c.705G>A	XP_011539495.1:p.Leu235=
NM_174936.4:c.1584G>A MANE Select	NP_777596.2:p.Leu528=
NR_110451.2:n.1191G>A