Canonical Allele Identifier: CA418181141
Gene: PCSK9 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.55518424C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55052751C>A , CM000663.2:g.55052751C>A GRCh38
NC_000001.10:g.55518424C>A , CM000663.1:g.55518424C>A GRCh37
NC_000001.9:g.55291012C>A NCBI36
NG_009061.1:g.18205C>A , LRG_275:g.18205C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000673913.2:c.759C>A ENSP00000501161.2:p.Leu253=
ENST00000710286.1:c.1116C>A ENSP00000518176.1:p.Leu372=
ENST00000673903.1:c.384C>A ENSP00000501257.1:p.Leu128=
ENST00000302118.5:c.759C>A MANE Select ENSP00000303208.5:p.Leu253=
ENST00000490692.1:n.1580C>A
NM_174936.3:c.759C>A , LRG_275t1:c.759C>A NP_777596.2:p.Leu253=
NR_110451.1:n.418C>A
NM_174936.4:c.759C>A MANE Select NP_777596.2:p.Leu253=
NR_110451.2:n.418C>A
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