Canonical Allele Identifier: CA1141581447
Community Standard Title: NM_000254.3(MTR):c.3518C= (p.Pro1173=)
Gene: MTR HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_000254.3:c.3518C= MANE Select NP_000245.2:p.Pro1173=
ENST00000366577.10:c.3518C= MANE Select ENSP00000355536.5:p.Pro1173=
NM_000254.2:c.3518C= NP_000245.2:p.Pro1173=
NM_001291939.1:c.3365C= NP_001278868.1:p.Pro1122=
NM_001291940.1:c.2297C= NP_001278869.1:p.Pro766=
NM_001291940.2:c.2297C= NP_001278869.1:p.Pro766=
ENST00000366576.3:c.2180C= ENSP00000355535.3:p.Pro727=
ENST00000366577.9:c.3518C= ENSP00000355536.5:p.Pro1173=
ENST00000470570.1:n.1130C=
ENST00000470570.2:n.4248C=
ENST00000535889.5:c.3365C= ENSP00000441845.1:p.Pro1122=
ENST00000535889.6:c.3365C= ENSP00000441845.1:p.Pro1122=
ENST00000650888.1:c.*2560C= ENSP00000498393.1:n.*2560C=
ENST00000651455.1:c.*2262C= ENSP00000498963.1:n.*2262C=
ENST00000674797.2:c.3170C= ENSP00000502299.2:p.Pro1057=
ENST00000679569.1:n.6645C=
ENST00000679842.1:c.3329C= ENSP00000506109.1:p.Pro1110=
ENST00000680454.1:n.6775C=
ENST00000681102.1:c.3338C= ENSP00000505600.1:p.Pro1113=
ENST00000681177.1:c.3080C= ENSP00000506327.1:p.Pro1027=
ENST00000681937.1:n.3712C=
XM_005273141.3:c.3515C= XP_005273198.1:p.Pro1172=
XM_005273141.5:c.3515C= XP_005273198.1:p.Pro1172=
XM_006711770.1:c.2582C= XP_006711833.1:p.Pro861=
XM_006711770.3:c.2582C= XP_006711833.1:p.Pro861=
XM_011544193.1:c.3329C= XP_011542495.1:p.Pro1110=
XM_011544194.1:c.3686C= XP_011542496.1:p.Pro1229=
XM_011544194.3:c.3686C= XP_011542496.1:p.Pro1229=
XM_017001329.2:c.3533C= XP_016856818.1:p.Pro1178=
XM_017001330.2:c.3497C= XP_016856819.1:p.Pro1166=