Canonical Allele Identifier: CA915941722
Gene: CYP27A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 642850
ClinVar RCV Id: RCV000796394
dbSNP Id: rs1575206688
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814067del , CM000664.2:g.218814067del GRCh38
NC_000002.11:g.219678790del , CM000664.1:g.219678790del GRCh37
NC_000002.10:g.219387034del NCBI36
NG_007959.1:g.37319del

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.1064del MANE Select ENSP00000258415.4:p.Pro355LeufsTer?
ENST00000258415.8:c.1064del ENSP00000258415.4:p.Pro355LeufsTer?
ENST00000445971.1:c.*525del ENSP00000404945.1:n.*525del
ENST00000466602.1:n.1186del
ENST00000494263.5:n.1498del
NM_000784.3:c.1064del NP_000775.1:p.Pro355LeufsTer?
XM_017003488.2:c.644del XP_016858977.1:p.Pro215LeufsTer?
NM_000784.4:c.1064del MANE Select NP_000775.1:p.Pro355LeufsTer?
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Search 100 bp 3'