Canonical Allele Identifier: CA345384628
Gene: MTR HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.236885202C>T , CM000663.2:g.236885202C>T GRCh38
NC_000001.10:g.237048502C>T , CM000663.1:g.237048502C>T GRCh37
NC_000001.9:g.235115125C>T NCBI36
NG_008959.1:g.94922C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000366577.10:c.2758C>T MANE Select ENSP00000355536.5:p.His920Tyr
ENST00000535889.6:c.2605C>T ENSP00000441845.1:p.His869Tyr
ENST00000650888.1:c.*1800C>T ENSP00000498393.1:n.*1800C>T
ENST00000651455.1:c.*1502C>T ENSP00000498963.1:n.*1502C>T
ENST00000674797.2:c.2410C>T ENSP00000502299.2:p.His804Tyr
ENST00000679569.1:n.3072C>T
ENST00000679842.1:c.2569C>T ENSP00000506109.1:p.His857Tyr
ENST00000680454.1:n.3202C>T
ENST00000681102.1:c.2578C>T ENSP00000505600.1:p.His860Tyr
ENST00000681177.1:c.2320C>T ENSP00000506327.1:p.His774Tyr
ENST00000681937.1:n.2952C>T
ENST00000366576.3:c.1420C>T ENSP00000355535.3:p.His474Tyr
ENST00000366577.9:c.2758C>T ENSP00000355536.5:p.His920Tyr
ENST00000535889.5:c.2605C>T ENSP00000441845.1:p.His869Tyr
NM_000254.2:c.2758C>T NP_000245.2:p.His920Tyr
NM_001291939.1:c.2605C>T NP_001278868.1:p.His869Tyr
NM_001291940.1:c.1537C>T NP_001278869.1:p.His513Tyr
XM_005273141.3:c.2755C>T XP_005273198.1:p.His919Tyr
XM_006711769.2:c.2758C>T XP_006711832.1:p.His920Tyr
XM_006711770.1:c.1822C>T XP_006711833.1:p.His608Tyr
XM_011544193.1:c.2569C>T XP_011542495.1:p.His857Tyr
XM_011544194.1:c.2926C>T XP_011542496.1:p.His976Tyr
XM_005273141.5:c.2755C>T XP_005273198.1:p.His919Tyr
XM_006711770.3:c.1822C>T XP_006711833.1:p.His608Tyr
XM_011544194.3:c.2926C>T XP_011542496.1:p.His976Tyr
XM_017001329.2:c.2773C>T XP_016856818.1:p.His925Tyr
XM_017001330.2:c.2737C>T XP_016856819.1:p.His913Tyr
NM_001291940.2:c.1537C>T NP_001278869.1:p.His513Tyr
NM_000254.3:c.2758C>T MANE Select NP_000245.2:p.His920Tyr