Canonical Allele Identifier: CA2645836869
Gene: PCSK9 HGNC NCBI

Linked Data

dbSNP Id: rs2100250118
gnomAD v4: 1-55039803-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55039803T>C , CM000663.2:g.55039803T>C GRCh38
NC_000001.10:g.55505476T>C , CM000663.1:g.55505476T>C GRCh37
NC_000001.9:g.55278064T>C NCBI36
NG_009061.1:g.5257T>C , LRG_275:g.5257T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.-35T>C ENSP00000501161.2:n.-35T>C
ENST00000710286.1:c.323T>C ENSP00000518176.1:p.Leu108Pro
ENST00000673726.1:c.-35T>C ENSP00000501004.1:n.-35T>C
ENST00000302118.5:c.-35T>C MANE Select ENSP00000303208.5:n.-35T>C
NM_174936.3:c.-35T>C , LRG_275t1:c.-35T>C NP_777596.2:n.-35T>C
NM_174936.4:c.-35T>C MANE Select NP_777596.2:n.-35T>C
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