Canonical Allele Identifier: CA417957526
Gene: PCSK9 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.55509614T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55043941T>A , CM000663.2:g.55043941T>A GRCh38
NC_000001.10:g.55509614T>A , CM000663.1:g.55509614T>A GRCh37
NC_000001.9:g.55282202T>A NCBI36
NG_009061.1:g.9395T>A , LRG_275:g.9395T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.306T>A ENSP00000501161.2:p.Ala102=
ENST00000710286.1:c.663T>A ENSP00000518176.1:p.Ala221=
ENST00000673726.1:c.306T>A ENSP00000501004.1:p.Ala102=
ENST00000673903.1:c.-70T>A ENSP00000501257.1:n.-70T>A
ENST00000302118.5:c.306T>A MANE Select ENSP00000303208.5:p.Ala102=
NM_174936.3:c.306T>A , LRG_275t1:c.306T>A NP_777596.2:p.Ala102=
NR_110451.1:n.182+3538T>A
NM_174936.4:c.306T>A MANE Select NP_777596.2:p.Ala102=
NR_110451.2:n.182+3538T>A