Canonical Allele Identifier: CA345375042
Gene: MTR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.236852968A>G , CM000663.2:g.236852968A>G GRCh38
NC_000001.10:g.237016268A>G , CM000663.1:g.237016268A>G GRCh37
NC_000001.9:g.235082891A>G NCBI36
NG_008959.1:g.62688A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000366577.10:c.1833A>G MANE Select ENSP00000355536.5:p.Ile611Met
ENST00000535889.6:c.1833A>G ENSP00000441845.1:p.Ile611Met
ENST00000650888.1:c.*875A>G ENSP00000498393.1:n.*875A>G
ENST00000651455.1:c.*577A>G ENSP00000498963.1:n.*577A>G
ENST00000674797.2:c.1485A>G ENSP00000502299.2:p.Ile495Met
ENST00000679569.1:n.2147A>G
ENST00000679842.1:c.1833A>G ENSP00000506109.1:p.Ile611Met
ENST00000680454.1:n.2277A>G
ENST00000681102.1:c.1653A>G ENSP00000505600.1:p.Ile551Met
ENST00000681177.1:c.1516-6865A>G ENSP00000506327.1:n.1516-6865A>G
ENST00000681937.1:n.2148-6865A>G
ENST00000366576.3:c.495A>G ENSP00000355535.3:p.Ile165Met
ENST00000366577.9:c.1833A>G ENSP00000355536.5:p.Ile611Met
ENST00000463959.1:n.1852A>G
ENST00000535889.5:c.1833A>G ENSP00000441845.1:p.Ile611Met
NM_000254.2:c.1833A>G NP_000245.2:p.Ile611Met
NM_001291939.1:c.1833A>G NP_001278868.1:p.Ile611Met
NM_001291940.1:c.612A>G NP_001278869.1:p.Ile204Met
XM_005273141.3:c.1830A>G XP_005273198.1:p.Ile610Met
XM_006711769.2:c.1833A>G XP_006711832.1:p.Ile611Met
XM_006711770.1:c.897A>G XP_006711833.1:p.Ile299Met
XM_011544193.1:c.1833A>G XP_011542495.1:p.Ile611Met
XM_011544194.1:c.2001A>G XP_011542496.1:p.Ile667Met
XM_005273141.5:c.1830A>G XP_005273198.1:p.Ile610Met
XM_006711770.3:c.897A>G XP_006711833.1:p.Ile299Met
XM_011544194.3:c.2001A>G XP_011542496.1:p.Ile667Met
XM_017001329.2:c.2001A>G XP_016856818.1:p.Ile667Met
XM_017001330.2:c.2001A>G XP_016856819.1:p.Ile667Met
NM_001291940.2:c.612A>G NP_001278869.1:p.Ile204Met
NM_000254.3:c.1833A>G MANE Select NP_000245.2:p.Ile611Met