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Canonical Allele Identifier:
CA22791318
Gene: PCSK9
HGNC
NCBI
Linked Data
dbSNP Id:
rs1015063567
gnomAD v4:
1-55039529-C-T
MyVariant Identifiers:
chr1:g.55505202C>T (hg19)
chr1:g.55039529C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.55039529C>T , CM000663.2:g.55039529C>T
GRCh38
NC_000001.10:g.55505202C>T , CM000663.1:g.55505202C>T
GRCh37
NC_000001.9:g.55277790C>T
NCBI36
NG_009061.1:g.4983C>T , LRG_275:g.4983C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000673913.2:c.-309C>T
ENSP00000501161.2:n.-309C>T
ENST00000710286.1:c.49C>T
ENSP00000518176.1:p.His17Tyr
ENST00000673726.1:c.-309C>T
ENSP00000501004.1:n.-309C>T
NM_174936.3:c.-309C>T , LRG_275t1:c.-309C>T
NP_777596.2:n.-309C>T
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