Canonical Allele Identifier: CA385503353

Gene: CYP27B1

Linked Data

• COSMIC: COSM5882307
• MyVariant Identifiers: chr12:g.58158194G>A (hg19) ; chr12:g.57764411G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57764411G>A , CM000674.2:g.57764411G>A	GRCh38
NC_000012.11:g.58158194G>A , CM000674.1:g.58158194G>A	GRCh37
NC_000012.10:g.56444461G>A	NCBI36
NG_007076.1:g.7783C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000713544.1:c.1184C>T	ENSP00000518840.1:p.Pro395Leu
ENST00000713545.1:c.*108C>T	ENSP00000518841.1:n.*108C>T
ENST00000228606.9:c.1103C>T MANE Select	ENSP00000228606.4:p.Pro368Leu
ENST00000228606.8:c.1103C>T	ENSP00000228606.4:p.Pro368Leu
ENST00000546567.5:c.398C>T	ENSP00000449472.1:p.Pro133Leu
ENST00000547344.5:n.1242C>T
NM_000785.3:c.1103C>T	NP_000776.1:p.Pro368Leu
NM_000785.4:c.1103C>T MANE Select	NP_000776.1:p.Pro368Leu