Canonical Allele Identifier: CA2038994977

Gene: CYP27B1 METTL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57768956A= , CM000674.2:g.57768956A=	GRCh38
NC_000012.11:g.58162739A= , CM000674.1:g.58162739A=	GRCh37
NC_000012.10:g.56449006A=	NCBI36
NG_007076.1:g.3238T=
NG_047060.1:g.8176T=

Transcript Alleles

HGVS	Amino-acid Change
NM_005371.6:c.*40T= (METTL1) MANE Select	NP_005362.3:n.*40T=
ENST00000324871.12:c.*40T= (METTL1) MANE Select	ENSP00000314441.7:n.*40T=
NM_005371.5:c.*40T= (METTL1)	NP_005362.3:n.*40T=
NM_023033.3:c.*218T= (METTL1)	NP_075422.3:n.*218T=
NM_023033.4:c.*218T= (METTL1)	NP_075422.3:n.*218T=
ENST00000257848.7:c.*218T= (METTL1)	ENSP00000257848.7:n.*218T=
ENST00000324871.11:c.*40T= (METTL1)	ENSP00000314441.7:n.*40T=
ENST00000546609.1:c.31T= (CYP27B1)
ENST00000546609.2:n.31T= (CYP27B1)
ENST00000547653.1:c.408T= (METTL1)
XM_005268873.1:c.*40T= (METTL1)	XP_005268930.1:n.*40T=
XM_005268873.2:c.*40T= (METTL1)	XP_005268930.1:n.*40T=