Canonical Allele Identifier: CA6658608
Gene: CYP27B1 HGNC NCBI
METTL1 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.57768956A>G
GRCh37 chr12:g.58162739A>G
gnomAD v2:
12:58162739 A / G
gnomAD v3:
12:57768956 A / G
gnomAD v4:
chr12-57768956-A-G
Joint Max Group AF 0.68809588 (EAS)
Genomes Max Group AF 0.6373476 (EAS)
Exomes Max Group AF 0.69280946 (EAS)
dbSNP:
703842
JSON-LD

Genomic Alleles

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

Transcript Alleles

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