Canonical Allele Identifier: CA340480939

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55063571-A-G
• MyVariant Identifiers: chr1:g.55529244A>G (hg19) ; chr1:g.55063571A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063571A>G , CM000663.2:g.55063571A>G	GRCh38
NC_000001.10:g.55529244A>G , CM000663.1:g.55529244A>G	GRCh37
NC_000001.9:g.55301832A>G	NCBI36
NG_009061.1:g.29025A>G , LRG_275:g.29025A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*406A>G	ENSP00000501161.2:n.*406A>G
ENST00000710286.1:c.2423A>G	ENSP00000518176.1:p.Gln808Arg
ENST00000673903.1:c.1691A>G	ENSP00000501257.1:p.Gln564Arg
ENST00000302118.5:c.2066A>G MANE Select	ENSP00000303208.5:p.Gln689Arg
ENST00000490692.1:n.2612A>G
NM_174936.3:c.2066A>G , LRG_275t1:c.2066A>G	NP_777596.2:p.Gln689Arg
NR_110451.1:n.1673A>G
XM_011541193.1:c.1187A>G	XP_011539495.1:p.Gln396Arg
NM_174936.4:c.2066A>G MANE Select	NP_777596.2:p.Gln689Arg
NR_110451.2:n.1673A>G