Canonical Allele Identifier: CA1167986673
Gene: PCSK9 HGNC NCBI

Linked Data

dbSNP Id: rs1570311819
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55063830T>G , CM000663.2:g.55063830T>G GRCh38
NC_000001.10:g.55529503T>G , CM000663.1:g.55529503T>G GRCh37
NC_000001.9:g.55302091T>G NCBI36
NG_009061.1:g.29284T>G , LRG_275:g.29284T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*665T>G ENSP00000501161.2:n.*665T>G
ENST00000710286.1:c.*246T>G ENSP00000518176.1:n.*246T>G
ENST00000673903.1:c.*246T>G ENSP00000501257.1:n.*246T>G
ENST00000302118.5:c.*246T>G MANE Select ENSP00000303208.5:n.*246T>G
ENST00000490692.1:n.2871T>G
NM_174936.3:c.*246T>G , LRG_275t1:c.*246T>G NP_777596.2:n.*246T>G
NR_110451.1:n.1932T>G
XM_011541193.1:c.*246T>G XP_011539495.1:n.*246T>G
NM_174936.4:c.*246T>G MANE Select NP_777596.2:n.*246T>G
NR_110451.2:n.1932T>G
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