Canonical Allele Identifier: CA345375029
Gene: MTR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.236852962G>T , CM000663.2:g.236852962G>T GRCh38
NC_000001.10:g.237016262G>T , CM000663.1:g.237016262G>T GRCh37
NC_000001.9:g.235082885G>T NCBI36
NG_008959.1:g.62682G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000366577.10:c.1827G>T MANE Select ENSP00000355536.5:p.Met609Ile
ENST00000535889.6:c.1827G>T ENSP00000441845.1:p.Met609Ile
ENST00000650888.1:c.*869G>T ENSP00000498393.1:n.*869G>T
ENST00000651455.1:c.*571G>T ENSP00000498963.1:n.*571G>T
ENST00000674797.2:c.1479G>T ENSP00000502299.2:p.Met493Ile
ENST00000679569.1:n.2141G>T
ENST00000679842.1:c.1827G>T ENSP00000506109.1:p.Met609Ile
ENST00000680454.1:n.2271G>T
ENST00000681102.1:c.1647G>T ENSP00000505600.1:p.Met549Ile
ENST00000681177.1:c.1516-6871G>T ENSP00000506327.1:n.1516-6871G>T
ENST00000681937.1:n.2148-6871G>T
ENST00000366576.3:c.489G>T ENSP00000355535.3:p.Met163Ile
ENST00000366577.9:c.1827G>T ENSP00000355536.5:p.Met609Ile
ENST00000463959.1:n.1846G>T
ENST00000535889.5:c.1827G>T ENSP00000441845.1:p.Met609Ile
NM_000254.2:c.1827G>T NP_000245.2:p.Met609Ile
NM_001291939.1:c.1827G>T NP_001278868.1:p.Met609Ile
NM_001291940.1:c.606G>T NP_001278869.1:p.Met202Ile
XM_005273141.3:c.1824G>T XP_005273198.1:p.Met608Ile
XM_006711769.2:c.1827G>T XP_006711832.1:p.Met609Ile
XM_006711770.1:c.891G>T XP_006711833.1:p.Met297Ile
XM_011544193.1:c.1827G>T XP_011542495.1:p.Met609Ile
XM_011544194.1:c.1995G>T XP_011542496.1:p.Met665Ile
XM_005273141.5:c.1824G>T XP_005273198.1:p.Met608Ile
XM_006711770.3:c.891G>T XP_006711833.1:p.Met297Ile
XM_011544194.3:c.1995G>T XP_011542496.1:p.Met665Ile
XM_017001329.2:c.1995G>T XP_016856818.1:p.Met665Ile
XM_017001330.2:c.1995G>T XP_016856819.1:p.Met665Ile
NM_001291940.2:c.606G>T NP_001278869.1:p.Met202Ile
NM_000254.3:c.1827G>T MANE Select NP_000245.2:p.Met609Ile