Canonical Allele Identifier: CA2645837936
Gene: PCSK9 HGNC NCBI

Linked Data

gnomAD v4: 1-55043707-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55043707T>G , CM000663.2:g.55043707T>G GRCh38
NC_000001.10:g.55509380T>G , CM000663.1:g.55509380T>G GRCh37
NC_000001.9:g.55281968T>G NCBI36
NG_009061.1:g.9161T>G , LRG_275:g.9161T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.208-136T>G ENSP00000501161.2:n.208-136T>G
ENST00000710286.1:c.565-136T>G ENSP00000518176.1:n.565-136T>G
ENST00000673726.1:c.208-136T>G ENSP00000501004.1:n.208-136T>G
ENST00000673903.1:c.-168-136T>G ENSP00000501257.1:n.-168-136T>G
ENST00000302118.5:c.208-136T>G MANE Select ENSP00000303208.5:n.208-136T>G
NM_174936.3:c.208-136T>G , LRG_275t1:c.208-136T>G NP_777596.2:n.208-136T>G
NR_110451.1:n.182+3304T>G
NM_174936.4:c.208-136T>G MANE Select NP_777596.2:n.208-136T>G
NR_110451.2:n.182+3304T>G
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