Canonical Allele Identifier: CA1474326

Gene: MTR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236862284C>T , CM000663.2:g.236862284C>T	GRCh38
NC_000001.10:g.237025584C>T , CM000663.1:g.237025584C>T	GRCh37
NC_000001.9:g.235092207C>T	NCBI36
NG_008959.1:g.72004C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366577.10:c.2245C>T MANE Select	ENSP00000355536.5:p.Pro749Ser
ENST00000535889.6:c.2092C>T	ENSP00000441845.1:p.Pro698Ser
ENST00000650888.1:c.*1287C>T	ENSP00000498393.1:n.*1287C>T
ENST00000651455.1:c.*989C>T	ENSP00000498963.1:n.*989C>T
ENST00000674797.2:c.1897C>T	ENSP00000502299.2:p.Pro633Ser
ENST00000679569.1:n.2559C>T
ENST00000679842.1:c.2245C>T	ENSP00000506109.1:p.Pro749Ser
ENST00000680454.1:n.2689C>T
ENST00000681102.1:c.2065C>T	ENSP00000505600.1:p.Pro689Ser
ENST00000681177.1:c.1807C>T	ENSP00000506327.1:p.Pro603Ser
ENST00000681937.1:n.2439C>T
ENST00000366576.3:c.907C>T	ENSP00000355535.3:p.Pro303Ser
ENST00000366577.9:c.2245C>T	ENSP00000355536.5:p.Pro749Ser
ENST00000535889.5:c.2092C>T	ENSP00000441845.1:p.Pro698Ser
NM_000254.2:c.2245C>T	NP_000245.2:p.Pro749Ser
NM_001291939.1:c.2092C>T	NP_001278868.1:p.Pro698Ser
NM_001291940.1:c.1024C>T	NP_001278869.1:p.Pro342Ser
XM_005273141.3:c.2242C>T	XP_005273198.1:p.Pro748Ser
XM_006711769.2:c.2245C>T	XP_006711832.1:p.Pro749Ser
XM_006711770.1:c.1309C>T	XP_006711833.1:p.Pro437Ser
XM_011544193.1:c.2245C>T	XP_011542495.1:p.Pro749Ser
XM_011544194.1:c.2413C>T	XP_011542496.1:p.Pro805Ser
XM_005273141.5:c.2242C>T	XP_005273198.1:p.Pro748Ser
XM_006711770.3:c.1309C>T	XP_006711833.1:p.Pro437Ser
XM_011544194.3:c.2413C>T	XP_011542496.1:p.Pro805Ser
XM_017001329.2:c.2260C>T	XP_016856818.1:p.Pro754Ser
XM_017001330.2:c.2413C>T	XP_016856819.1:p.Pro805Ser
NM_001291940.2:c.1024C>T	NP_001278869.1:p.Pro342Ser
NM_000254.3:c.2245C>T MANE Select	NP_000245.2:p.Pro749Ser