Canonical Allele Identifier: CA6658235
Gene: CYP27B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2528376
ClinVar RCV Id: RCV003275203
dbSNP Id: rs537825066

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764462A>T , CM000674.2:g.57764462A>T GRCh38
NC_000012.11:g.58158245A>T , CM000674.1:g.58158245A>T GRCh37
NC_000012.10:g.56444512A>T NCBI36
NG_007076.1:g.7732T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1133T>A ENSP00000518840.1:p.Leu378Gln
ENST00000713545.1:c.*57T>A ENSP00000518841.1:n.*57T>A
ENST00000228606.9:c.1052T>A MANE Select ENSP00000228606.4:p.Leu351Gln
ENST00000228606.8:c.1052T>A ENSP00000228606.4:p.Leu351Gln
ENST00000546567.5:c.347T>A ENSP00000449472.1:p.Leu116Gln
ENST00000547344.5:n.1191T>A
NM_000785.3:c.1052T>A NP_000776.1:p.Leu351Gln
NM_000785.4:c.1052T>A MANE Select NP_000776.1:p.Leu351Gln