Canonical Allele Identifier: CA2645836306
Gene: PCSK9 HGNC NCBI

Linked Data

gnomAD v4: 1-55039623-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55039623A>T , CM000663.2:g.55039623A>T GRCh38
NC_000001.10:g.55505296A>T , CM000663.1:g.55505296A>T GRCh37
NC_000001.9:g.55277884A>T NCBI36
NG_009061.1:g.5077A>T , LRG_275:g.5077A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000673913.2:c.-215A>T ENSP00000501161.2:n.-215A>T
ENST00000710286.1:c.143A>T ENSP00000518176.1:p.Gln48Leu
ENST00000673726.1:c.-215A>T ENSP00000501004.1:n.-215A>T
ENST00000302118.5:c.-215A>T MANE Select ENSP00000303208.5:n.-215A>T
NM_174936.3:c.-215A>T , LRG_275t1:c.-215A>T NP_777596.2:n.-215A>T
NM_174936.4:c.-215A>T MANE Select NP_777596.2:n.-215A>T
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