Canonical Allele Identifier: CA345374756
Gene: MTR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.236852566T>G , CM000663.2:g.236852566T>G GRCh38
NC_000001.10:g.237015866T>G , CM000663.1:g.237015866T>G GRCh37
NC_000001.9:g.235082489T>G NCBI36
NG_008959.1:g.62286T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000366577.10:c.1741T>G MANE Select ENSP00000355536.5:p.Ser581Ala
ENST00000535889.6:c.1741T>G ENSP00000441845.1:p.Ser581Ala
ENST00000650888.1:c.*783T>G ENSP00000498393.1:n.*783T>G
ENST00000651455.1:c.*485T>G ENSP00000498963.1:n.*485T>G
ENST00000674797.2:c.1393T>G ENSP00000502299.2:p.Ser465Ala
ENST00000679569.1:n.2055T>G
ENST00000679842.1:c.1741T>G ENSP00000506109.1:p.Ser581Ala
ENST00000680454.1:n.2185T>G
ENST00000681102.1:c.1561T>G ENSP00000505600.1:p.Ser521Ala
ENST00000681177.1:c.1516-7267T>G ENSP00000506327.1:n.1516-7267T>G
ENST00000681937.1:n.2148-7267T>G
ENST00000366576.3:c.403T>G ENSP00000355535.3:p.Ser135Ala
ENST00000366577.9:c.1741T>G ENSP00000355536.5:p.Ser581Ala
ENST00000463959.1:n.1760T>G
ENST00000535889.5:c.1741T>G ENSP00000441845.1:p.Ser581Ala
NM_000254.2:c.1741T>G NP_000245.2:p.Ser581Ala
NM_001291939.1:c.1741T>G NP_001278868.1:p.Ser581Ala
NM_001291940.1:c.520T>G NP_001278869.1:p.Ser174Ala
XM_005273141.3:c.1738T>G XP_005273198.1:p.Ser580Ala
XM_006711769.2:c.1741T>G XP_006711832.1:p.Ser581Ala
XM_006711770.1:c.805T>G XP_006711833.1:p.Ser269Ala
XM_011544193.1:c.1741T>G XP_011542495.1:p.Ser581Ala
XM_011544194.1:c.1909T>G XP_011542496.1:p.Ser637Ala
XM_005273141.5:c.1738T>G XP_005273198.1:p.Ser580Ala
XM_006711770.3:c.805T>G XP_006711833.1:p.Ser269Ala
XM_011544194.3:c.1909T>G XP_011542496.1:p.Ser637Ala
XM_017001329.2:c.1909T>G XP_016856818.1:p.Ser637Ala
XM_017001330.2:c.1909T>G XP_016856819.1:p.Ser637Ala
NM_001291940.2:c.520T>G NP_001278869.1:p.Ser174Ala
NM_000254.3:c.1741T>G MANE Select NP_000245.2:p.Ser581Ala