Canonical Allele Identifier: CA115126
Gene: CYP27B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1660
ClinVar RCV Id: RCV000001727
dbSNP Id: rs28934606

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764510C>G , CM000674.2:g.57764510C>G GRCh38
NC_000012.11:g.58158293C>G , CM000674.1:g.58158293C>G GRCh37
NC_000012.10:g.56444560C>G NCBI36
NG_007076.1:g.7684G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000713544.1:c.1085G>C ENSP00000518840.1:p.Arg362Pro
ENST00000713545.1:c.*9G>C ENSP00000518841.1:n.*9G>C
ENST00000228606.9:c.1004G>C MANE Select ENSP00000228606.4:p.Arg335Pro
ENST00000228606.8:c.1004G>C ENSP00000228606.4:p.Arg335Pro
ENST00000546567.5:c.299G>C ENSP00000449472.1:p.Arg100Pro
ENST00000547344.5:n.1143G>C
NM_000785.3:c.1004G>C NP_000776.1:p.Arg335Pro
NM_000785.4:c.1004G>C MANE Select NP_000776.1:p.Arg335Pro