Canonical Allele Identifier: CA385505363

Gene: CYP27B1

Linked Data

• MyVariant Identifiers: chr12:g.58158911C>G (hg19) ; chr12:g.57765128C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765128C>G , CM000674.2:g.57765128C>G	GRCh38
NC_000012.11:g.58158911C>G , CM000674.1:g.58158911C>G	GRCh37
NC_000012.10:g.56445178C>G	NCBI36
NG_007076.1:g.7066G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.585G>C
ENST00000713544.1:c.754G>C	ENSP00000518840.1:p.Val252Leu
ENST00000713545.1:c.731G>C	ENSP00000518841.1:p.Cys244Ser
ENST00000228606.9:c.673G>C MANE Select	ENSP00000228606.4:p.Val225Leu
ENST00000228606.8:c.673G>C	ENSP00000228606.4:p.Val225Leu
ENST00000546567.5:c.-33G>C	ENSP00000449472.1:n.-33G>C
ENST00000546609.1:c.585G>C
ENST00000547344.5:n.812G>C
ENST00000547451.1:n.473G>C
NM_000785.3:c.673G>C	NP_000776.1:p.Val225Leu
NM_000785.4:c.673G>C MANE Select	NP_000776.1:p.Val225Leu