Canonical Allele Identifier: CA385503569

Gene: CYP27B1

Linked Data

• COSMIC: COSM3987113
• MyVariant Identifiers: chr12:g.58158227G>A (hg19) ; chr12:g.57764444G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57764444G>A , CM000674.2:g.57764444G>A	GRCh38
NC_000012.11:g.58158227G>A , CM000674.1:g.58158227G>A	GRCh37
NC_000012.10:g.56444494G>A	NCBI36
NG_007076.1:g.7750C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1151C>T	ENSP00000518840.1:p.Ala384Val
ENST00000713545.1:c.*75C>T	ENSP00000518841.1:n.*75C>T
ENST00000228606.9:c.1070C>T MANE Select	ENSP00000228606.4:p.Ala357Val
ENST00000228606.8:c.1070C>T	ENSP00000228606.4:p.Ala357Val
ENST00000546567.5:c.365C>T	ENSP00000449472.1:p.Ala122Val
ENST00000547344.5:n.1209C>T
NM_000785.3:c.1070C>T	NP_000776.1:p.Ala357Val
NM_000785.4:c.1070C>T MANE Select	NP_000776.1:p.Ala357Val