Canonical Allele Identifier: CA417957373
Gene: PCSK9 HGNC NCBI

Linked Data

gnomAD v4: 1-55039960-G-A
MyVariant Identifiers: chr1:g.55505633G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55039960G>A , CM000663.2:g.55039960G>A GRCh38
NC_000001.10:g.55505633G>A , CM000663.1:g.55505633G>A GRCh37
NC_000001.9:g.55278221G>A NCBI36
NG_009061.1:g.5414G>A , LRG_275:g.5414G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.123G>A ENSP00000501161.2:p.Leu41=
ENST00000710286.1:c.480G>A ENSP00000518176.1:p.Leu160=
ENST00000673726.1:c.123G>A ENSP00000501004.1:p.Leu41=
ENST00000302118.5:c.123G>A MANE Select ENSP00000303208.5:p.Leu41=
NM_174936.3:c.123G>A , LRG_275t1:c.123G>A NP_777596.2:p.Leu41=
NM_174936.4:c.123G>A MANE Select NP_777596.2:p.Leu41=