Canonical Allele Identifier: CA345374823
Gene: MTR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.236852584A>G , CM000663.2:g.236852584A>G GRCh38
NC_000001.10:g.237015884A>G , CM000663.1:g.237015884A>G GRCh37
NC_000001.9:g.235082507A>G NCBI36
NG_008959.1:g.62304A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000366577.10:c.1759A>G MANE Select ENSP00000355536.5:p.Met587Val
ENST00000535889.6:c.1759A>G ENSP00000441845.1:p.Met587Val
ENST00000650888.1:c.*801A>G ENSP00000498393.1:n.*801A>G
ENST00000651455.1:c.*503A>G ENSP00000498963.1:n.*503A>G
ENST00000674797.2:c.1411A>G ENSP00000502299.2:p.Met471Val
ENST00000679569.1:n.2073A>G
ENST00000679842.1:c.1759A>G ENSP00000506109.1:p.Met587Val
ENST00000680454.1:n.2203A>G
ENST00000681102.1:c.1579A>G ENSP00000505600.1:p.Met527Val
ENST00000681177.1:c.1516-7249A>G ENSP00000506327.1:n.1516-7249A>G
ENST00000681937.1:n.2148-7249A>G
ENST00000366576.3:c.421A>G ENSP00000355535.3:p.Met141Val
ENST00000366577.9:c.1759A>G ENSP00000355536.5:p.Met587Val
ENST00000463959.1:n.1778A>G
ENST00000535889.5:c.1759A>G ENSP00000441845.1:p.Met587Val
NM_000254.2:c.1759A>G NP_000245.2:p.Met587Val
NM_001291939.1:c.1759A>G NP_001278868.1:p.Met587Val
NM_001291940.1:c.538A>G NP_001278869.1:p.Met180Val
XM_005273141.3:c.1756A>G XP_005273198.1:p.Met586Val
XM_006711769.2:c.1759A>G XP_006711832.1:p.Met587Val
XM_006711770.1:c.823A>G XP_006711833.1:p.Met275Val
XM_011544193.1:c.1759A>G XP_011542495.1:p.Met587Val
XM_011544194.1:c.1927A>G XP_011542496.1:p.Met643Val
XM_005273141.5:c.1756A>G XP_005273198.1:p.Met586Val
XM_006711770.3:c.823A>G XP_006711833.1:p.Met275Val
XM_011544194.3:c.1927A>G XP_011542496.1:p.Met643Val
XM_017001329.2:c.1927A>G XP_016856818.1:p.Met643Val
XM_017001330.2:c.1927A>G XP_016856819.1:p.Met643Val
NM_001291940.2:c.538A>G NP_001278869.1:p.Met180Val
NM_000254.3:c.1759A>G MANE Select NP_000245.2:p.Met587Val