Canonical Allele Identifier: CA340482848
Gene: PCSK9 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.55505649T>A (hg19) chr1:g.55039976T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55039976T>A , CM000663.2:g.55039976T>A GRCh38
NC_000001.10:g.55505649T>A , CM000663.1:g.55505649T>A GRCh37
NC_000001.9:g.55278237T>A NCBI36
NG_009061.1:g.5430T>A , LRG_275:g.5430T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000673913.2:c.139T>A ENSP00000501161.2:p.Ser47Thr
ENST00000710286.1:c.496T>A ENSP00000518176.1:p.Ser166Thr
ENST00000673726.1:c.139T>A ENSP00000501004.1:p.Ser47Thr
ENST00000302118.5:c.139T>A MANE Select ENSP00000303208.5:p.Ser47Thr
NM_174936.3:c.139T>A , LRG_275t1:c.139T>A NP_777596.2:p.Ser47Thr
NM_174936.4:c.139T>A MANE Select NP_777596.2:p.Ser47Thr
Search 100 bp 5'
Search 100 bp 3'