Canonical Allele Identifier: CA737022749
Gene: PCSK9 HGNC NCBI

Linked Data

dbSNP Id: rs1206848101
MyVariant Identifiers: chr1:g.55505291G>C (hg19) chr1:g.55039618G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55039618G>C , CM000663.2:g.55039618G>C GRCh38
NC_000001.10:g.55505291G>C , CM000663.1:g.55505291G>C GRCh37
NC_000001.9:g.55277879G>C NCBI36
NG_009061.1:g.5072G>C , LRG_275:g.5072G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000673913.2:c.-220G>C ENSP00000501161.2:n.-220G>C
ENST00000710286.1:c.138G>C ENSP00000518176.1:p.Val46=
ENST00000673726.1:c.-220G>C ENSP00000501004.1:n.-220G>C
ENST00000302118.5:c.-220G>C MANE Select ENSP00000303208.5:n.-220G>C
NM_174936.3:c.-220G>C , LRG_275t1:c.-220G>C NP_777596.2:n.-220G>C
NM_174936.4:c.-220G>C MANE Select NP_777596.2:n.-220G>C
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