Canonical Allele Identifier: CA2645840845
Gene: PCSK9 HGNC NCBI

Linked Data

gnomAD v4: 1-55063811-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55063811C>G , CM000663.2:g.55063811C>G GRCh38
NC_000001.10:g.55529484C>G , CM000663.1:g.55529484C>G GRCh37
NC_000001.9:g.55302072C>G NCBI36
NG_009061.1:g.29265C>G , LRG_275:g.29265C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*646C>G ENSP00000501161.2:n.*646C>G
ENST00000710286.1:c.*227C>G ENSP00000518176.1:n.*227C>G
ENST00000673903.1:c.*227C>G ENSP00000501257.1:n.*227C>G
ENST00000302118.5:c.*227C>G MANE Select ENSP00000303208.5:n.*227C>G
ENST00000490692.1:n.2852C>G
NM_174936.3:c.*227C>G , LRG_275t1:c.*227C>G NP_777596.2:n.*227C>G
NR_110451.1:n.1913C>G
XM_011541193.1:c.*227C>G XP_011539495.1:n.*227C>G
NM_174936.4:c.*227C>G MANE Select NP_777596.2:n.*227C>G
NR_110451.2:n.1913C>G
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