Canonical Allele Identifier: CA145384
Gene: MTRFR HGNC NCBI
CDK2AP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 88864
ClinVar RCV Id: RCV000074452
dbSNP Id: rs398122365

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.123256945C>T , CM000674.2:g.123256945C>T GRCh38
NC_000012.11:g.123741492C>T , CM000674.1:g.123741492C>T GRCh37
NC_000012.10:g.122307445C>T NCBI36
NG_027517.1:g.28649C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000253233.6:c.415C>T (MTRFR) MANE Select ENSP00000253233.1:p.Gln139Ter
ENST00000366329.7:c.415C>T (MTRFR) ENSP00000390647.1:p.Gln139Ter
ENST00000425637.3:c.*1132C>T (MTRFR) ENSP00000506680.1:n.*1132C>T
ENST00000536130.2:c.415C>T (MTRFR) ENSP00000443072.2:p.Gln139Ter
ENST00000538888.6:c.*298C>T (MTRFR) ENSP00000505059.1:n.*298C>T
ENST00000541002.7:n.809+2098G>A
ENST00000543139.2:c.415C>T (MTRFR) ENSP00000444843.2:p.Gln139Ter
ENST00000543217.6:n.280+2098G>A
ENST00000652466.1:c.*955+3329G>A (CDK2AP1) ENSP00000498286.1:n.*955+3329G>A
ENST00000679849.1:c.415C>T (MTRFR) ENSP00000505808.1:p.Gln139Ter
ENST00000680325.1:c.*803C>T (MTRFR) ENSP00000505277.1:n.*803C>T
ENST00000253233.5:c.415C>T (MTRFR) ENSP00000253233.1:p.Gln139Ter
ENST00000366329.6:c.415C>T (MTRFR) ENSP00000390647.1:p.Gln139Ter
ENST00000425637.2:n.1615C>T (MTRFR)
ENST00000429587.2:c.415C>T (MTRFR) ENSP00000391513.2:p.Gln139Ter
ENST00000543139.1:c.415C>T (MTRFR)
NM_001143905.2:c.415C>T (MTRFR) NP_001137377.1:p.Gln139Ter
NM_001194995.1:c.415C>T (MTRFR) NP_001181924.1:p.Gln139Ter
NM_152269.4:c.415C>T (MTRFR) NP_689482.1:p.Gln139Ter
XM_005253630.3:c.415C>T (MTRFR) XP_005253687.1:p.Gln139Ter
XM_011538980.1:c.415C>T (MTRFR) XP_011537282.1:p.Gln139Ter
XM_011538981.1:c.415C>T (MTRFR) XP_011537283.1:p.Gln139Ter
XM_011538982.1:c.415C>T (MTRFR) XP_011537284.1:p.Gln139Ter
XR_945472.1:n.186+2098G>A
XM_005253630.4:c.415C>T (MTRFR) XP_005253687.1:p.Gln139Ter
XM_011538980.3:c.415C>T (MTRFR) XP_011537282.1:p.Gln139Ter
XM_024449273.1:c.415C>T (MTRFR) XP_024305041.1:p.Gln139Ter
NM_152269.5:c.415C>T (MTRFR) MANE Select NP_689482.1:p.Gln139Ter