Canonical Allele Identifier: CA385502929
Gene: CYP27B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764175G>C , CM000674.2:g.57764175G>C GRCh38
NC_000012.11:g.58157958G>C , CM000674.1:g.58157958G>C GRCh37
NC_000012.10:g.56444225G>C NCBI36
NG_007076.1:g.8019C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000713544.1:c.1219C>G ENSP00000518840.1:p.Leu407Val
ENST00000713545.1:c.*143C>G ENSP00000518841.1:n.*143C>G
ENST00000228606.9:c.1138C>G MANE Select ENSP00000228606.4:p.Leu380Val
ENST00000228606.8:c.1138C>G ENSP00000228606.4:p.Leu380Val
ENST00000546567.5:c.433C>G ENSP00000449472.1:p.Leu145Val
ENST00000547344.5:n.1277C>G
NM_000785.3:c.1138C>G NP_000776.1:p.Leu380Val
NM_000785.4:c.1138C>G MANE Select NP_000776.1:p.Leu380Val