Canonical Allele Identifier: CA340482764
Gene: PCSK9 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.55505607G>C (hg19) chr1:g.55039934G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55039934G>C , CM000663.2:g.55039934G>C GRCh38
NC_000001.10:g.55505607G>C , CM000663.1:g.55505607G>C GRCh37
NC_000001.9:g.55278195G>C NCBI36
NG_009061.1:g.5388G>C , LRG_275:g.5388G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.97G>C ENSP00000501161.2:p.Asp33His
ENST00000710286.1:c.454G>C ENSP00000518176.1:p.Asp152His
ENST00000673726.1:c.97G>C ENSP00000501004.1:p.Asp33His
ENST00000302118.5:c.97G>C MANE Select ENSP00000303208.5:p.Asp33His
NM_174936.3:c.97G>C , LRG_275t1:c.97G>C NP_777596.2:p.Asp33His
NM_174936.4:c.97G>C MANE Select NP_777596.2:p.Asp33His
Search 100 bp 5'
Search 100 bp 3'