Canonical Allele Identifier: CA871500
Gene: PCSK9 HGNC NCBI

Linked Data

ClinVar Variation Id: 927115
ClinVar RCV Id: RCV001190137 RCV002491569
dbSNP Id: rs772102827
ExAC: 1:55529200 CG / C
gnomAD v2: 1-55529200-CG-C
gnomAD v3: 1-55063527-CG-C
gnomAD v4: 1-55063527-CG-C
MyVariant Identifiers: chr1:g.55529201del (hg19) chr1:g.55063528del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55063528del , CM000663.2:g.55063528del GRCh38
NC_000001.10:g.55529201del , CM000663.1:g.55529201del GRCh37
NC_000001.9:g.55301789del NCBI36
NG_009061.1:g.28982del , LRG_275:g.28982del

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*363del ENSP00000501161.2:n.*363del
ENST00000710286.1:c.2380del ENSP00000518176.1:p.Val794LeufsTer?
ENST00000673903.1:c.1648del ENSP00000501257.1:p.Val550LeufsTer?
ENST00000673913.1:c.873del ENSP00000501161.1:n.873del
ENST00000302118.5:c.2023del MANE Select ENSP00000303208.5:p.Val675LeufsTer?
ENST00000490692.1:n.2569del
NM_174936.3:c.2023del , LRG_275t1:c.2023del NP_777596.2:p.Val675LeufsTer?
NR_110451.1:n.1630del
XM_011541193.1:c.1144del XP_011539495.1:p.Val382LeufsTer?
NM_174936.4:c.2023del MANE Select NP_777596.2:p.Val675LeufsTer?
NR_110451.2:n.1630del
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