Canonical Allele Identifier: CA345375023
Gene: MTR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.236852960A>T , CM000663.2:g.236852960A>T GRCh38
NC_000001.10:g.237016260A>T , CM000663.1:g.237016260A>T GRCh37
NC_000001.9:g.235082883A>T NCBI36
NG_008959.1:g.62680A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000366577.10:c.1825A>T MANE Select ENSP00000355536.5:p.Met609Leu
ENST00000535889.6:c.1825A>T ENSP00000441845.1:p.Met609Leu
ENST00000650888.1:c.*867A>T ENSP00000498393.1:n.*867A>T
ENST00000651455.1:c.*569A>T ENSP00000498963.1:n.*569A>T
ENST00000674797.2:c.1477A>T ENSP00000502299.2:p.Met493Leu
ENST00000679569.1:n.2139A>T
ENST00000679842.1:c.1825A>T ENSP00000506109.1:p.Met609Leu
ENST00000680454.1:n.2269A>T
ENST00000681102.1:c.1645A>T ENSP00000505600.1:p.Met549Leu
ENST00000681177.1:c.1516-6873A>T ENSP00000506327.1:n.1516-6873A>T
ENST00000681937.1:n.2148-6873A>T
ENST00000366576.3:c.487A>T ENSP00000355535.3:p.Met163Leu
ENST00000366577.9:c.1825A>T ENSP00000355536.5:p.Met609Leu
ENST00000463959.1:n.1844A>T
ENST00000535889.5:c.1825A>T ENSP00000441845.1:p.Met609Leu
NM_000254.2:c.1825A>T NP_000245.2:p.Met609Leu
NM_001291939.1:c.1825A>T NP_001278868.1:p.Met609Leu
NM_001291940.1:c.604A>T NP_001278869.1:p.Met202Leu
XM_005273141.3:c.1822A>T XP_005273198.1:p.Met608Leu
XM_006711769.2:c.1825A>T XP_006711832.1:p.Met609Leu
XM_006711770.1:c.889A>T XP_006711833.1:p.Met297Leu
XM_011544193.1:c.1825A>T XP_011542495.1:p.Met609Leu
XM_011544194.1:c.1993A>T XP_011542496.1:p.Met665Leu
XM_005273141.5:c.1822A>T XP_005273198.1:p.Met608Leu
XM_006711770.3:c.889A>T XP_006711833.1:p.Met297Leu
XM_011544194.3:c.1993A>T XP_011542496.1:p.Met665Leu
XM_017001329.2:c.1993A>T XP_016856818.1:p.Met665Leu
XM_017001330.2:c.1993A>T XP_016856819.1:p.Met665Leu
NM_001291940.2:c.604A>T NP_001278869.1:p.Met202Leu
NM_000254.3:c.1825A>T MANE Select NP_000245.2:p.Met609Leu