Canonical Allele Identifier: CA2697550458
Gene: CYP27A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2697865
ClinVar RCV Id: RCV003502892
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218812594dup , CM000664.2:g.218812594dup GRCh38
NC_000002.11:g.219677317dup , CM000664.1:g.219677317dup GRCh37
NC_000002.10:g.219385561dup NCBI36
NG_007959.1:g.35846dup

Transcript Alleles

HGVS Amino-acid change
ENST00000258415.9:c.689dup MANE Select ENSP00000258415.4:p.Arg231AlafsTer?
ENST00000258415.8:c.689dup ENSP00000258415.4:p.Arg231AlafsTer?
ENST00000411688.1:c.407dup ENSP00000392671.1:p.Arg137AlafsTer?
ENST00000445971.1:c.*150dup ENSP00000404945.1:n.*150dup
ENST00000466602.1:n.637dup
ENST00000494263.5:n.1123dup
NM_000784.3:c.689dup NP_000775.1:p.Arg231AlafsTer?
XM_017003488.2:c.269dup XP_016858977.1:p.Arg91AlafsTer?
NM_000784.4:c.689dup MANE Select NP_000775.1:p.Arg231AlafsTer?
Search 100 bp 5'
Search 100 bp 3'