Canonical Allele Identifier: CA385507568
Gene: CYP27B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57766014G>C , CM000674.2:g.57766014G>C GRCh38
NC_000012.11:g.58159797G>C , CM000674.1:g.58159797G>C GRCh37
NC_000012.10:g.56446064G>C NCBI36
NG_007076.1:g.6180C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000546609.2:n.291C>G
ENST00000713544.1:c.379C>G ENSP00000518840.1:p.Leu127Val
ENST00000713545.1:c.379C>G ENSP00000518841.1:p.Leu127Val
ENST00000228606.9:c.379C>G MANE Select ENSP00000228606.4:p.Leu127Val
ENST00000228606.8:c.379C>G ENSP00000228606.4:p.Leu127Val
ENST00000546496.1:n.207C>G
ENST00000546609.1:c.291C>G
ENST00000547344.5:n.433C>G
ENST00000552186.1:n.498C>G
NM_000785.3:c.379C>G NP_000776.1:p.Leu127Val
NM_000785.4:c.379C>G MANE Select NP_000776.1:p.Leu127Val