Canonical Allele Identifier: CA417957393

Gene: PCSK9

Linked Data

• ClinVar Variation Id: 1771530
• ClinVar RCV Id: RCV002396664
• MyVariant Identifiers: chr1:g.55505648T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55039975T>G , CM000663.2:g.55039975T>G	GRCh38
NC_000001.10:g.55505648T>G , CM000663.1:g.55505648T>G	GRCh37
NC_000001.9:g.55278236T>G	NCBI36
NG_009061.1:g.5429T>G , LRG_275:g.5429T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000673913.2:c.138T>G	ENSP00000501161.2:p.Arg46=
ENST00000710286.1:c.495T>G	ENSP00000518176.1:p.Arg165=
ENST00000673726.1:c.138T>G	ENSP00000501004.1:p.Arg46=
ENST00000302118.5:c.138T>G MANE Select	ENSP00000303208.5:p.Arg46=
NM_174936.3:c.138T>G , LRG_275t1:c.138T>G	NP_777596.2:p.Arg46=
NM_174936.4:c.138T>G MANE Select	NP_777596.2:p.Arg46=