Canonical Allele Identifier: CA340480906
Gene: PCSK9 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.55529228C>A (hg19) chr1:g.55063555C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55063555C>A , CM000663.2:g.55063555C>A GRCh38
NC_000001.10:g.55529228C>A , CM000663.1:g.55529228C>A GRCh37
NC_000001.9:g.55301816C>A NCBI36
NG_009061.1:g.29009C>A , LRG_275:g.29009C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*390C>A ENSP00000501161.2:n.*390C>A
ENST00000710286.1:c.2407C>A ENSP00000518176.1:p.Leu803Met
ENST00000673903.1:c.1675C>A ENSP00000501257.1:p.Leu559Met
ENST00000302118.5:c.2050C>A MANE Select ENSP00000303208.5:p.Leu684Met
ENST00000490692.1:n.2596C>A
NM_174936.3:c.2050C>A , LRG_275t1:c.2050C>A NP_777596.2:p.Leu684Met
NR_110451.1:n.1657C>A
XM_011541193.1:c.1171C>A XP_011539495.1:p.Leu391Met
NM_174936.4:c.2050C>A MANE Select NP_777596.2:p.Leu684Met
NR_110451.2:n.1657C>A
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