Canonical Allele Identifier: CA345384432
Gene: MTR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.236885146T>A , CM000663.2:g.236885146T>A GRCh38
NC_000001.10:g.237048446T>A , CM000663.1:g.237048446T>A GRCh37
NC_000001.9:g.235115069T>A NCBI36
NG_008959.1:g.94866T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366577.10:c.2702T>A MANE Select ENSP00000355536.5:p.Leu901Gln
ENST00000535889.6:c.2549T>A ENSP00000441845.1:p.Leu850Gln
ENST00000650888.1:c.*1744T>A ENSP00000498393.1:n.*1744T>A
ENST00000651455.1:c.*1446T>A ENSP00000498963.1:n.*1446T>A
ENST00000674797.2:c.2354T>A ENSP00000502299.2:p.Leu785Gln
ENST00000679569.1:n.3016T>A
ENST00000679842.1:c.2513T>A ENSP00000506109.1:p.Leu838Gln
ENST00000680454.1:n.3146T>A
ENST00000681102.1:c.2522T>A ENSP00000505600.1:p.Leu841Gln
ENST00000681177.1:c.2264T>A ENSP00000506327.1:p.Leu755Gln
ENST00000681937.1:n.2896T>A
ENST00000366576.3:c.1364T>A ENSP00000355535.3:p.Leu455Gln
ENST00000366577.9:c.2702T>A ENSP00000355536.5:p.Leu901Gln
ENST00000535889.5:c.2549T>A ENSP00000441845.1:p.Leu850Gln
NM_000254.2:c.2702T>A NP_000245.2:p.Leu901Gln
NM_001291939.1:c.2549T>A NP_001278868.1:p.Leu850Gln
NM_001291940.1:c.1481T>A NP_001278869.1:p.Leu494Gln
XM_005273141.3:c.2699T>A XP_005273198.1:p.Leu900Gln
XM_006711769.2:c.2702T>A XP_006711832.1:p.Leu901Gln
XM_006711770.1:c.1766T>A XP_006711833.1:p.Leu589Gln
XM_011544193.1:c.2513T>A XP_011542495.1:p.Leu838Gln
XM_011544194.1:c.2870T>A XP_011542496.1:p.Leu957Gln
XM_005273141.5:c.2699T>A XP_005273198.1:p.Leu900Gln
XM_006711770.3:c.1766T>A XP_006711833.1:p.Leu589Gln
XM_011544194.3:c.2870T>A XP_011542496.1:p.Leu957Gln
XM_017001329.2:c.2717T>A XP_016856818.1:p.Leu906Gln
XM_017001330.2:c.2681T>A XP_016856819.1:p.Leu894Gln
NM_001291940.2:c.1481T>A NP_001278869.1:p.Leu494Gln
NM_000254.3:c.2702T>A MANE Select NP_000245.2:p.Leu901Gln