Canonical Allele Identifier: CA345383324
Gene: MTR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.236880834G>A , CM000663.2:g.236880834G>A GRCh38
NC_000001.10:g.237044134G>A , CM000663.1:g.237044134G>A GRCh37
NC_000001.9:g.235110757G>A NCBI36
NG_008959.1:g.90554G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000366577.10:c.2674G>A MANE Select ENSP00000355536.5:p.Val892Met
ENST00000535889.6:c.2521G>A ENSP00000441845.1:p.Val841Met
ENST00000650888.1:c.*1716G>A ENSP00000498393.1:n.*1716G>A
ENST00000651455.1:c.*1418G>A ENSP00000498963.1:n.*1418G>A
ENST00000674797.2:c.2326G>A ENSP00000502299.2:p.Val776Met
ENST00000679569.1:n.2988G>A
ENST00000679842.1:c.2485G>A ENSP00000506109.1:p.Val829Met
ENST00000680454.1:n.3118G>A
ENST00000681102.1:c.2494G>A ENSP00000505600.1:p.Val832Met
ENST00000681177.1:c.2236G>A ENSP00000506327.1:p.Val746Met
ENST00000681937.1:n.2868G>A
ENST00000366576.3:c.1336G>A ENSP00000355535.3:p.Val446Met
ENST00000366577.9:c.2674G>A ENSP00000355536.5:p.Val892Met
ENST00000535889.5:c.2521G>A ENSP00000441845.1:p.Val841Met
NM_000254.2:c.2674G>A NP_000245.2:p.Val892Met
NM_001291939.1:c.2521G>A NP_001278868.1:p.Val841Met
NM_001291940.1:c.1453G>A NP_001278869.1:p.Val485Met
XM_005273141.3:c.2671G>A XP_005273198.1:p.Val891Met
XM_006711769.2:c.2674G>A XP_006711832.1:p.Val892Met
XM_006711770.1:c.1738G>A XP_006711833.1:p.Val580Met
XM_011544193.1:c.2485G>A XP_011542495.1:p.Val829Met
XM_011544194.1:c.2842G>A XP_011542496.1:p.Val948Met
XM_005273141.5:c.2671G>A XP_005273198.1:p.Val891Met
XM_006711770.3:c.1738G>A XP_006711833.1:p.Val580Met
XM_011544194.3:c.2842G>A XP_011542496.1:p.Val948Met
XM_017001329.2:c.2689G>A XP_016856818.1:p.Val897Met
XM_017001330.2:c.2653G>A XP_016856819.1:p.Val885Met
NM_001291940.2:c.1453G>A NP_001278869.1:p.Val485Met
NM_000254.3:c.2674G>A MANE Select NP_000245.2:p.Val892Met