Canonical Allele Identifier: CA2038994976
Gene: CYP27B1 HGNC NCBI
METTL1 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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