Canonical Allele Identifier: CA385501225
Gene: CYP27B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1343091
ClinVar RCV Id: RCV001843693
dbSNP Id: rs2140396224
MyVariant Identifiers: chr12:g.58157575C>T (hg19) chr12:g.57763792C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57763792C>T , CM000674.2:g.57763792C>T GRCh38
NC_000012.11:g.58157575C>T , CM000674.1:g.58157575C>T GRCh37
NC_000012.10:g.56443842C>T NCBI36
NG_007076.1:g.8402G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1313G>A ENSP00000518840.1:p.Cys438Tyr
ENST00000713545.1:c.*237G>A ENSP00000518841.1:n.*237G>A
ENST00000228606.9:c.1232G>A MANE Select ENSP00000228606.4:p.Cys411Tyr
ENST00000228606.8:c.1232G>A ENSP00000228606.4:p.Cys411Tyr
ENST00000547344.5:n.1371G>A
NM_000785.3:c.1232G>A NP_000776.1:p.Cys411Tyr
NM_000785.4:c.1232G>A MANE Select NP_000776.1:p.Cys411Tyr
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