Canonical Allele Identifier: CA340480904
Gene: PCSK9 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.55529227C>A (hg19) chr1:g.55063554C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55063554C>A , CM000663.2:g.55063554C>A GRCh38
NC_000001.10:g.55529227C>A , CM000663.1:g.55529227C>A GRCh37
NC_000001.9:g.55301815C>A NCBI36
NG_009061.1:g.29008C>A , LRG_275:g.29008C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*389C>A ENSP00000501161.2:n.*389C>A
ENST00000710286.1:c.2406C>A ENSP00000518176.1:p.His802Gln
ENST00000673903.1:c.1674C>A ENSP00000501257.1:p.His558Gln
ENST00000302118.5:c.2049C>A MANE Select ENSP00000303208.5:p.His683Gln
ENST00000490692.1:n.2595C>A
NM_174936.3:c.2049C>A , LRG_275t1:c.2049C>A NP_777596.2:p.His683Gln
NR_110451.1:n.1656C>A
XM_011541193.1:c.1170C>A XP_011539495.1:p.His390Gln
NM_174936.4:c.2049C>A MANE Select NP_777596.2:p.His683Gln
NR_110451.2:n.1656C>A
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