Canonical Allele Identifier: CA345384342
Gene: MTR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.236885122G>T , CM000663.2:g.236885122G>T GRCh38
NC_000001.10:g.237048422G>T , CM000663.1:g.237048422G>T GRCh37
NC_000001.9:g.235115045G>T NCBI36
NG_008959.1:g.94842G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000366577.10:c.2678G>T MANE Select ENSP00000355536.5:p.Cys893Phe
ENST00000535889.6:c.2525G>T ENSP00000441845.1:p.Cys842Phe
ENST00000650888.1:c.*1720G>T ENSP00000498393.1:n.*1720G>T
ENST00000651455.1:c.*1422G>T ENSP00000498963.1:n.*1422G>T
ENST00000674797.2:c.2330G>T ENSP00000502299.2:p.Cys777Phe
ENST00000679569.1:n.2992G>T
ENST00000679842.1:c.2489G>T ENSP00000506109.1:p.Cys830Phe
ENST00000680454.1:n.3122G>T
ENST00000681102.1:c.2498G>T ENSP00000505600.1:p.Cys833Phe
ENST00000681177.1:c.2240G>T ENSP00000506327.1:p.Cys747Phe
ENST00000681937.1:n.2872G>T
ENST00000366576.3:c.1340G>T ENSP00000355535.3:p.Cys447Phe
ENST00000366577.9:c.2678G>T ENSP00000355536.5:p.Cys893Phe
ENST00000535889.5:c.2525G>T ENSP00000441845.1:p.Cys842Phe
NM_000254.2:c.2678G>T NP_000245.2:p.Cys893Phe
NM_001291939.1:c.2525G>T NP_001278868.1:p.Cys842Phe
NM_001291940.1:c.1457G>T NP_001278869.1:p.Cys486Phe
XM_005273141.3:c.2675G>T XP_005273198.1:p.Cys892Phe
XM_006711769.2:c.2678G>T XP_006711832.1:p.Cys893Phe
XM_006711770.1:c.1742G>T XP_006711833.1:p.Cys581Phe
XM_011544193.1:c.2489G>T XP_011542495.1:p.Cys830Phe
XM_011544194.1:c.2846G>T XP_011542496.1:p.Cys949Phe
XM_005273141.5:c.2675G>T XP_005273198.1:p.Cys892Phe
XM_006711770.3:c.1742G>T XP_006711833.1:p.Cys581Phe
XM_011544194.3:c.2846G>T XP_011542496.1:p.Cys949Phe
XM_017001329.2:c.2693G>T XP_016856818.1:p.Cys898Phe
XM_017001330.2:c.2657G>T XP_016856819.1:p.Cys886Phe
NM_001291940.2:c.1457G>T NP_001278869.1:p.Cys486Phe
NM_000254.3:c.2678G>T MANE Select NP_000245.2:p.Cys893Phe