Canonical Allele Identifier: CA916181094
Gene: PCSK9 HGNC NCBI

Linked Data

dbSNP Id: rs1570311580
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55063545dup , CM000663.2:g.55063545dup GRCh38
NC_000001.10:g.55529218dup , CM000663.1:g.55529218dup GRCh37
NC_000001.9:g.55301806dup NCBI36
NG_009061.1:g.28999dup , LRG_275:g.28999dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*380dup ENSP00000501161.2:n.*380dup
ENST00000710286.1:c.2397dup ENSP00000518176.1:p.Ser800GlufsTer30
ENST00000673903.1:c.1665dup ENSP00000501257.1:p.Ser556GlufsTer30
ENST00000302118.5:c.2040dup MANE Select ENSP00000303208.5:p.Ser681GlufsTer30
ENST00000490692.1:n.2586dup
NM_174936.3:c.2040dup , LRG_275t1:c.2040dup NP_777596.2:p.Ser681GlufsTer30
NR_110451.1:n.1647dup
XM_011541193.1:c.1161dup XP_011539495.1:p.Ser388GlufsTer30
NM_174936.4:c.2040dup MANE Select NP_777596.2:p.Ser681GlufsTer30
NR_110451.2:n.1647dup
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