Canonical Allele Identifier: CA2645836548
Gene: PCSK9 HGNC NCBI

Linked Data

gnomAD v4: 1-55039706-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55039706T>G , CM000663.2:g.55039706T>G GRCh38
NC_000001.10:g.55505379T>G , CM000663.1:g.55505379T>G GRCh37
NC_000001.9:g.55277967T>G NCBI36
NG_009061.1:g.5160T>G , LRG_275:g.5160T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.-132T>G ENSP00000501161.2:n.-132T>G
ENST00000710286.1:c.226T>G ENSP00000518176.1:p.Phe76Val
ENST00000673726.1:c.-132T>G ENSP00000501004.1:n.-132T>G
ENST00000302118.5:c.-132T>G MANE Select ENSP00000303208.5:n.-132T>G
NM_174936.3:c.-132T>G , LRG_275t1:c.-132T>G NP_777596.2:n.-132T>G
NM_174936.4:c.-132T>G MANE Select NP_777596.2:n.-132T>G
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