Canonical Allele Identifier: CA2645836296
Gene: PCSK9 HGNC NCBI

Linked Data

gnomAD v4: 1-55039618-G-T
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.-220G>T ENSP00000501161.2:n.-220G>T
ENST00000710286.1:c.138G>T ENSP00000518176.1:p.Val46=
ENST00000673726.1:c.-220G>T ENSP00000501004.1:n.-220G>T
ENST00000302118.5:c.-220G>T MANE Select ENSP00000303208.5:n.-220G>T
NM_174936.3:c.-220G>T , LRG_275t1:c.-220G>T NP_777596.2:n.-220G>T
NM_174936.4:c.-220G>T MANE Select NP_777596.2:n.-220G>T
Search 100 bp 5'
Search 100 bp 3'