Canonical Allele Identifier: CA345390222
Community Standard Title: NM_000254.3(MTR):c.3518C>G (p.Pro1173Arg)
Gene: MTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.236895470C>G , CM000663.2:g.236895470C>G GRCh38
NC_000001.10:g.237058770C>G , CM000663.1:g.237058770C>G GRCh37
NC_000001.9:g.235125393C>G NCBI36
NG_008959.1:g.105190C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000254.3:c.3518C>G MANE Select NP_000245.2:p.Pro1173Arg
ENST00000366577.10:c.3518C>G MANE Select ENSP00000355536.5:p.Pro1173Arg
NM_000254.2:c.3518C>G NP_000245.2:p.Pro1173Arg
NM_001291939.1:c.3365C>G NP_001278868.1:p.Pro1122Arg
NM_001291940.1:c.2297C>G NP_001278869.1:p.Pro766Arg
NM_001291940.2:c.2297C>G NP_001278869.1:p.Pro766Arg
ENST00000366576.3:c.2180C>G ENSP00000355535.3:p.Pro727Arg
ENST00000366577.9:c.3518C>G ENSP00000355536.5:p.Pro1173Arg
ENST00000470570.1:n.1130C>G
ENST00000470570.2:n.4248C>G
ENST00000535889.5:c.3365C>G ENSP00000441845.1:p.Pro1122Arg
ENST00000535889.6:c.3365C>G ENSP00000441845.1:p.Pro1122Arg
ENST00000650888.1:c.*2560C>G ENSP00000498393.1:n.*2560C>G
ENST00000651455.1:c.*2262C>G ENSP00000498963.1:n.*2262C>G
ENST00000674797.2:c.3170C>G ENSP00000502299.2:p.Pro1057Arg
ENST00000679569.1:n.6645C>G
ENST00000679842.1:c.3329C>G ENSP00000506109.1:p.Pro1110Arg
ENST00000680454.1:n.6775C>G
ENST00000681102.1:c.3338C>G ENSP00000505600.1:p.Pro1113Arg
ENST00000681177.1:c.3080C>G ENSP00000506327.1:p.Pro1027Arg
ENST00000681937.1:n.3712C>G
XM_005273141.3:c.3515C>G XP_005273198.1:p.Pro1172Arg
XM_005273141.5:c.3515C>G XP_005273198.1:p.Pro1172Arg
XM_006711770.1:c.2582C>G XP_006711833.1:p.Pro861Arg
XM_006711770.3:c.2582C>G XP_006711833.1:p.Pro861Arg
XM_011544193.1:c.3329C>G XP_011542495.1:p.Pro1110Arg
XM_011544194.1:c.3686C>G XP_011542496.1:p.Pro1229Arg
XM_011544194.3:c.3686C>G XP_011542496.1:p.Pro1229Arg
XM_017001329.2:c.3533C>G XP_016856818.1:p.Pro1178Arg
XM_017001330.2:c.3497C>G XP_016856819.1:p.Pro1166Arg