Canonical Allele Identifier: CA340480961
Gene: PCSK9 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.55529255T>A (hg19) chr1:g.55063582T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55063582T>A , CM000663.2:g.55063582T>A GRCh38
NC_000001.10:g.55529255T>A , CM000663.1:g.55529255T>A GRCh37
NC_000001.9:g.55301843T>A NCBI36
NG_009061.1:g.29036T>A , LRG_275:g.29036T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*417T>A ENSP00000501161.2:n.*417T>A
ENST00000710286.1:c.2434T>A ENSP00000518176.1:p.Ter812Arg
ENST00000673903.1:c.1702T>A ENSP00000501257.1:p.Ter568Arg
ENST00000302118.5:c.2077T>A MANE Select ENSP00000303208.5:p.Ter693Arg
ENST00000490692.1:n.2623T>A
NM_174936.3:c.2077T>A , LRG_275t1:c.2077T>A NP_777596.2:p.Ter693Arg
NR_110451.1:n.1684T>A
XM_011541193.1:c.1198T>A XP_011539495.1:p.Ter400Arg
NM_174936.4:c.2077T>A MANE Select NP_777596.2:p.Ter693Arg
NR_110451.2:n.1684T>A
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