Canonical Allele Identifier: CA345384717
Gene: MTR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.236885218A>T , CM000663.2:g.236885218A>T GRCh38
NC_000001.10:g.237048518A>T , CM000663.1:g.237048518A>T GRCh37
NC_000001.9:g.235115141A>T NCBI36
NG_008959.1:g.94938A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000366577.10:c.2774A>T MANE Select ENSP00000355536.5:p.Lys925Met
ENST00000535889.6:c.2621A>T ENSP00000441845.1:p.Lys874Met
ENST00000650888.1:c.*1816A>T ENSP00000498393.1:n.*1816A>T
ENST00000651455.1:c.*1518A>T ENSP00000498963.1:n.*1518A>T
ENST00000674797.2:c.2426A>T ENSP00000502299.2:p.Lys809Met
ENST00000679569.1:n.3088A>T
ENST00000679842.1:c.2585A>T ENSP00000506109.1:p.Lys862Met
ENST00000680454.1:n.3218A>T
ENST00000681102.1:c.2594A>T ENSP00000505600.1:p.Lys865Met
ENST00000681177.1:c.2336A>T ENSP00000506327.1:p.Lys779Met
ENST00000681937.1:n.2968A>T
ENST00000366576.3:c.1436A>T ENSP00000355535.3:p.Lys479Met
ENST00000366577.9:c.2774A>T ENSP00000355536.5:p.Lys925Met
ENST00000535889.5:c.2621A>T ENSP00000441845.1:p.Lys874Met
NM_000254.2:c.2774A>T NP_000245.2:p.Lys925Met
NM_001291939.1:c.2621A>T NP_001278868.1:p.Lys874Met
NM_001291940.1:c.1553A>T NP_001278869.1:p.Lys518Met
XM_005273141.3:c.2771A>T XP_005273198.1:p.Lys924Met
XM_006711769.2:c.2774A>T XP_006711832.1:p.Lys925Met
XM_006711770.1:c.1838A>T XP_006711833.1:p.Lys613Met
XM_011544193.1:c.2585A>T XP_011542495.1:p.Lys862Met
XM_011544194.1:c.2942A>T XP_011542496.1:p.Lys981Met
XM_005273141.5:c.2771A>T XP_005273198.1:p.Lys924Met
XM_006711770.3:c.1838A>T XP_006711833.1:p.Lys613Met
XM_011544194.3:c.2942A>T XP_011542496.1:p.Lys981Met
XM_017001329.2:c.2789A>T XP_016856818.1:p.Lys930Met
XM_017001330.2:c.2753A>T XP_016856819.1:p.Lys918Met
NM_001291940.2:c.1553A>T NP_001278869.1:p.Lys518Met
NM_000254.3:c.2774A>T MANE Select NP_000245.2:p.Lys925Met