Canonical Allele Identifier: CA345375037
Gene: MTR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.236852966A>G , CM000663.2:g.236852966A>G GRCh38
NC_000001.10:g.237016266A>G , CM000663.1:g.237016266A>G GRCh37
NC_000001.9:g.235082889A>G NCBI36
NG_008959.1:g.62686A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000366577.10:c.1831A>G MANE Select ENSP00000355536.5:p.Ile611Val
ENST00000535889.6:c.1831A>G ENSP00000441845.1:p.Ile611Val
ENST00000650888.1:c.*873A>G ENSP00000498393.1:n.*873A>G
ENST00000651455.1:c.*575A>G ENSP00000498963.1:n.*575A>G
ENST00000674797.2:c.1483A>G ENSP00000502299.2:p.Ile495Val
ENST00000679569.1:n.2145A>G
ENST00000679842.1:c.1831A>G ENSP00000506109.1:p.Ile611Val
ENST00000680454.1:n.2275A>G
ENST00000681102.1:c.1651A>G ENSP00000505600.1:p.Ile551Val
ENST00000681177.1:c.1516-6867A>G ENSP00000506327.1:n.1516-6867A>G
ENST00000681937.1:n.2148-6867A>G
ENST00000366576.3:c.493A>G ENSP00000355535.3:p.Ile165Val
ENST00000366577.9:c.1831A>G ENSP00000355536.5:p.Ile611Val
ENST00000463959.1:n.1850A>G
ENST00000535889.5:c.1831A>G ENSP00000441845.1:p.Ile611Val
NM_000254.2:c.1831A>G NP_000245.2:p.Ile611Val
NM_001291939.1:c.1831A>G NP_001278868.1:p.Ile611Val
NM_001291940.1:c.610A>G NP_001278869.1:p.Ile204Val
XM_005273141.3:c.1828A>G XP_005273198.1:p.Ile610Val
XM_006711769.2:c.1831A>G XP_006711832.1:p.Ile611Val
XM_006711770.1:c.895A>G XP_006711833.1:p.Ile299Val
XM_011544193.1:c.1831A>G XP_011542495.1:p.Ile611Val
XM_011544194.1:c.1999A>G XP_011542496.1:p.Ile667Val
XM_005273141.5:c.1828A>G XP_005273198.1:p.Ile610Val
XM_006711770.3:c.895A>G XP_006711833.1:p.Ile299Val
XM_011544194.3:c.1999A>G XP_011542496.1:p.Ile667Val
XM_017001329.2:c.1999A>G XP_016856818.1:p.Ile667Val
XM_017001330.2:c.1999A>G XP_016856819.1:p.Ile667Val
NM_001291940.2:c.610A>G NP_001278869.1:p.Ile204Val
NM_000254.3:c.1831A>G MANE Select NP_000245.2:p.Ile611Val