Canonical Allele Identifier: CA417960554

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55061505-A-G
• MyVariant Identifiers: chr1:g.55527178A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061505A>G , CM000663.2:g.55061505A>G	GRCh38
NC_000001.10:g.55527178A>G , CM000663.1:g.55527178A>G	GRCh37
NC_000001.9:g.55299766A>G	NCBI36
NG_009061.1:g.26959A>G , LRG_275:g.26959A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*152A>G	ENSP00000501161.2:n.*152A>G
ENST00000710286.1:c.2169A>G	ENSP00000518176.1:p.Pro723=
ENST00000673903.1:c.1437A>G	ENSP00000501257.1:p.Pro479=
ENST00000673913.1:c.662A>G	ENSP00000501161.1:n.662A>G
ENST00000302118.5:c.1812A>G MANE Select	ENSP00000303208.5:p.Pro604=
ENST00000490692.1:n.2358A>G
NM_174936.3:c.1812A>G , LRG_275t1:c.1812A>G	NP_777596.2:p.Pro604=
NR_110451.1:n.1419A>G
XM_011541193.1:c.933A>G	XP_011539495.1:p.Pro311=
NM_174936.4:c.1812A>G MANE Select	NP_777596.2:p.Pro604=
NR_110451.2:n.1419A>G