Canonical Allele Identifier: CA039722
Gene: PCSK9 HGNC NCBI

Linked Data

ClinVar Variation Id: 510674
ClinVar RCV Id: RCV000607922 RCV001096001 RCV000863558 RCV000771328 RCV002413722
dbSNP Id: rs145770391
ExAC: 1:55529107 C / T
gnomAD v2: 1-55529107-C-T
gnomAD v3: 1-55063434-C-T
gnomAD v4: 1-55063434-C-T
MyVariant Identifiers: chr1:g.55529107C>T (hg19) chr1:g.55063434C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55063434C>T , CM000663.2:g.55063434C>T GRCh38
NC_000001.10:g.55529107C>T , CM000663.1:g.55529107C>T GRCh37
NC_000001.9:g.55301695C>T NCBI36
NG_009061.1:g.28888C>T , LRG_275:g.28888C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*269C>T ENSP00000501161.2:n.*269C>T
ENST00000710286.1:c.2286C>T ENSP00000518176.1:p.His762=
ENST00000673903.1:c.1554C>T ENSP00000501257.1:p.His518=
ENST00000673913.1:c.779C>T ENSP00000501161.1:n.779C>T
ENST00000302118.5:c.1929C>T MANE Select ENSP00000303208.5:p.His643=
ENST00000490692.1:n.2475C>T
NM_174936.3:c.1929C>T , LRG_275t1:c.1929C>T NP_777596.2:p.His643=
NR_110451.1:n.1536C>T
XM_011541193.1:c.1050C>T XP_011539495.1:p.His350=
NM_174936.4:c.1929C>T MANE Select NP_777596.2:p.His643=
NR_110451.2:n.1536C>T
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