Canonical Allele Identifier: CA1474194
Gene: MTR HGNC NCBI

Linked Data

dbSNP Id: rs769950851

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.236852970T>C , CM000663.2:g.236852970T>C GRCh38
NC_000001.10:g.237016270T>C , CM000663.1:g.237016270T>C GRCh37
NC_000001.9:g.235082893T>C NCBI36
NG_008959.1:g.62690T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000366577.10:c.1835T>C MANE Select ENSP00000355536.5:p.Val612Ala
ENST00000535889.6:c.1835T>C ENSP00000441845.1:p.Val612Ala
ENST00000650888.1:c.*877T>C ENSP00000498393.1:n.*877T>C
ENST00000651455.1:c.*579T>C ENSP00000498963.1:n.*579T>C
ENST00000674797.2:c.1487T>C ENSP00000502299.2:p.Val496Ala
ENST00000679569.1:n.2149T>C
ENST00000679842.1:c.1835T>C ENSP00000506109.1:p.Val612Ala
ENST00000680454.1:n.2279T>C
ENST00000681102.1:c.1655T>C ENSP00000505600.1:p.Val552Ala
ENST00000681177.1:c.1516-6863T>C ENSP00000506327.1:n.1516-6863T>C
ENST00000681937.1:n.2148-6863T>C
ENST00000366576.3:c.497T>C ENSP00000355535.3:p.Val166Ala
ENST00000366577.9:c.1835T>C ENSP00000355536.5:p.Val612Ala
ENST00000463959.1:n.1854T>C
ENST00000535889.5:c.1835T>C ENSP00000441845.1:p.Val612Ala
NM_000254.2:c.1835T>C NP_000245.2:p.Val612Ala
NM_001291939.1:c.1835T>C NP_001278868.1:p.Val612Ala
NM_001291940.1:c.614T>C NP_001278869.1:p.Val205Ala
XM_005273141.3:c.1832T>C XP_005273198.1:p.Val611Ala
XM_006711769.2:c.1835T>C XP_006711832.1:p.Val612Ala
XM_006711770.1:c.899T>C XP_006711833.1:p.Val300Ala
XM_011544193.1:c.1835T>C XP_011542495.1:p.Val612Ala
XM_011544194.1:c.2003T>C XP_011542496.1:p.Val668Ala
XM_005273141.5:c.1832T>C XP_005273198.1:p.Val611Ala
XM_006711770.3:c.899T>C XP_006711833.1:p.Val300Ala
XM_011544194.3:c.2003T>C XP_011542496.1:p.Val668Ala
XM_017001329.2:c.2003T>C XP_016856818.1:p.Val668Ala
XM_017001330.2:c.2003T>C XP_016856819.1:p.Val668Ala
NM_001291940.2:c.614T>C NP_001278869.1:p.Val205Ala
NM_000254.3:c.1835T>C MANE Select NP_000245.2:p.Val612Ala