Canonical Allele Identifier: CA345384375
Gene: MTR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.236885131T>G , CM000663.2:g.236885131T>G GRCh38
NC_000001.10:g.237048431T>G , CM000663.1:g.237048431T>G GRCh37
NC_000001.9:g.235115054T>G NCBI36
NG_008959.1:g.94851T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000366577.10:c.2687T>G MANE Select ENSP00000355536.5:p.Leu896Arg
ENST00000535889.6:c.2534T>G ENSP00000441845.1:p.Leu845Arg
ENST00000650888.1:c.*1729T>G ENSP00000498393.1:n.*1729T>G
ENST00000651455.1:c.*1431T>G ENSP00000498963.1:n.*1431T>G
ENST00000674797.2:c.2339T>G ENSP00000502299.2:p.Leu780Arg
ENST00000679569.1:n.3001T>G
ENST00000679842.1:c.2498T>G ENSP00000506109.1:p.Leu833Arg
ENST00000680454.1:n.3131T>G
ENST00000681102.1:c.2507T>G ENSP00000505600.1:p.Leu836Arg
ENST00000681177.1:c.2249T>G ENSP00000506327.1:p.Leu750Arg
ENST00000681937.1:n.2881T>G
ENST00000366576.3:c.1349T>G ENSP00000355535.3:p.Leu450Arg
ENST00000366577.9:c.2687T>G ENSP00000355536.5:p.Leu896Arg
ENST00000535889.5:c.2534T>G ENSP00000441845.1:p.Leu845Arg
NM_000254.2:c.2687T>G NP_000245.2:p.Leu896Arg
NM_001291939.1:c.2534T>G NP_001278868.1:p.Leu845Arg
NM_001291940.1:c.1466T>G NP_001278869.1:p.Leu489Arg
XM_005273141.3:c.2684T>G XP_005273198.1:p.Leu895Arg
XM_006711769.2:c.2687T>G XP_006711832.1:p.Leu896Arg
XM_006711770.1:c.1751T>G XP_006711833.1:p.Leu584Arg
XM_011544193.1:c.2498T>G XP_011542495.1:p.Leu833Arg
XM_011544194.1:c.2855T>G XP_011542496.1:p.Leu952Arg
XM_005273141.5:c.2684T>G XP_005273198.1:p.Leu895Arg
XM_006711770.3:c.1751T>G XP_006711833.1:p.Leu584Arg
XM_011544194.3:c.2855T>G XP_011542496.1:p.Leu952Arg
XM_017001329.2:c.2702T>G XP_016856818.1:p.Leu901Arg
XM_017001330.2:c.2666T>G XP_016856819.1:p.Leu889Arg
NM_001291940.2:c.1466T>G NP_001278869.1:p.Leu489Arg
NM_000254.3:c.2687T>G MANE Select NP_000245.2:p.Leu896Arg