Canonical Allele Identifier: CA040459
Gene: PCSK9 HGNC NCBI

Linked Data

ClinVar Variation Id: 927116
ClinVar RCV Id: RCV001190138 RCV002418642
dbSNP Id: rs753308448
ExAC: 1:55529222 C / T
gnomAD v2: 1-55529222-C-T
gnomAD v3: 1-55063549-C-T
gnomAD v4: 1-55063549-C-T
MyVariant Identifiers: chr1:g.55529222C>T (hg19) chr1:g.55063549C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55063549C>T , CM000663.2:g.55063549C>T GRCh38
NC_000001.10:g.55529222C>T , CM000663.1:g.55529222C>T GRCh37
NC_000001.9:g.55301810C>T NCBI36
NG_009061.1:g.29003C>T , LRG_275:g.29003C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*384C>T ENSP00000501161.2:n.*384C>T
ENST00000710286.1:c.2401C>T ENSP00000518176.1:p.Arg801Trp
ENST00000673903.1:c.1669C>T ENSP00000501257.1:p.Arg557Trp
ENST00000302118.5:c.2044C>T MANE Select ENSP00000303208.5:p.Arg682Trp
ENST00000490692.1:n.2590C>T
NM_174936.3:c.2044C>T , LRG_275t1:c.2044C>T NP_777596.2:p.Arg682Trp
NR_110451.1:n.1651C>T
XM_011541193.1:c.1165C>T XP_011539495.1:p.Arg389Trp
NM_174936.4:c.2044C>T MANE Select NP_777596.2:p.Arg682Trp
NR_110451.2:n.1651C>T
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