Canonical Allele Identifier: CA345390221

Gene: MTR

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_000254.3:c.3518C>A MANE Select	NP_000245.2:p.Pro1173Gln
ENST00000366577.10:c.3518C>A MANE Select	ENSP00000355536.5:p.Pro1173Gln
NM_000254.2:c.3518C>A	NP_000245.2:p.Pro1173Gln
NM_001291939.1:c.3365C>A	NP_001278868.1:p.Pro1122Gln
NM_001291940.1:c.2297C>A	NP_001278869.1:p.Pro766Gln
NM_001291940.2:c.2297C>A	NP_001278869.1:p.Pro766Gln
ENST00000366576.3:c.2180C>A	ENSP00000355535.3:p.Pro727Gln
ENST00000366577.9:c.3518C>A	ENSP00000355536.5:p.Pro1173Gln
ENST00000470570.1:n.1130C>A
ENST00000470570.2:n.4248C>A
ENST00000535889.5:c.3365C>A	ENSP00000441845.1:p.Pro1122Gln
ENST00000535889.6:c.3365C>A	ENSP00000441845.1:p.Pro1122Gln
ENST00000650888.1:c.*2560C>A	ENSP00000498393.1:n.*2560C>A
ENST00000651455.1:c.*2262C>A	ENSP00000498963.1:n.*2262C>A
ENST00000674797.2:c.3170C>A	ENSP00000502299.2:p.Pro1057Gln
ENST00000679569.1:n.6645C>A
ENST00000679842.1:c.3329C>A	ENSP00000506109.1:p.Pro1110Gln
ENST00000680454.1:n.6775C>A
ENST00000681102.1:c.3338C>A	ENSP00000505600.1:p.Pro1113Gln
ENST00000681177.1:c.3080C>A	ENSP00000506327.1:p.Pro1027Gln
ENST00000681937.1:n.3712C>A
XM_005273141.3:c.3515C>A	XP_005273198.1:p.Pro1172Gln
XM_005273141.5:c.3515C>A	XP_005273198.1:p.Pro1172Gln
XM_006711770.1:c.2582C>A	XP_006711833.1:p.Pro861Gln
XM_006711770.3:c.2582C>A	XP_006711833.1:p.Pro861Gln
XM_011544193.1:c.3329C>A	XP_011542495.1:p.Pro1110Gln
XM_011544194.1:c.3686C>A	XP_011542496.1:p.Pro1229Gln
XM_011544194.3:c.3686C>A	XP_011542496.1:p.Pro1229Gln
XM_017001329.2:c.3533C>A	XP_016856818.1:p.Pro1178Gln
XM_017001330.2:c.3497C>A	XP_016856819.1:p.Pro1166Gln