Canonical Allele Identifier: CA2580073440

Gene: MTRR

Linked Data

• ClinVar Variation Id: 2126896
• ClinVar RCV Id: RCV003047515

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7891399_7891405dup , CM000667.2:g.7891399_7891405dup	GRCh38
NC_000005.9:g.7891512_7891518dup , CM000667.1:g.7891512_7891518dup	GRCh37
NC_000005.8:g.7944512_7944518dup	NCBI36
NG_008856.1:g.27296_27302dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440940.7:c.1355_1361dup MANE Select	ENSP00000402510.2:p.Cys455IlefsTer?
ENST00000264668.6:c.1436_1442dup	ENSP00000264668.2:p.Cys482IlefsTer?
ENST00000440940.6:c.1355_1361dup	ENSP00000402510.2:p.Cys455IlefsTer?
ENST00000507202.1:n.31_37dup
ENST00000507414.1:n.95_101dup
ENST00000510525.5:c.1291_1297dup
ENST00000511461.5:c.1268_1274dup
ENST00000512311.5:n.334_340dup
ENST00000513439.5:c.*1062_*1068dup	ENSP00000426710.1:n.*1062_*1068dup
NM_002454.2:c.1355_1361dup	NP_002445.2:p.Cys455IlefsTer?
NM_024010.2:c.1436_1442dup	NP_076915.2:p.Cys482IlefsTer?
XM_011514043.1:c.1436_1442dup	XP_011512345.1:p.Cys482IlefsTer?
XM_011514044.1:c.1355_1361dup	XP_011512346.1:p.Cys455IlefsTer?
XR_241702.1:n.1369_1375dup
XR_241703.1:n.1362_1368dup
XR_925614.1:n.1481_1487dup
XR_925615.1:n.1633_1639dup
NM_001364440.1:c.1355_1361dup	NP_001351369.1:p.Cys455IlefsTer?
NM_001364441.1:c.1355_1361dup	NP_001351370.1:p.Cys455IlefsTer?
NM_001364442.1:c.1355_1361dup	NP_001351371.1:p.Cys455IlefsTer?
NM_024010.3:c.1355_1361dup	NP_076915.3:p.Cys455IlefsTer?
NR_134480.1:n.1478_1484dup
NR_134481.1:n.1403_1409dup
NR_134482.1:n.1338_1344dup
NR_157168.1:n.1408_1414dup
NR_157169.1:n.1268_1274dup
NR_157170.1:n.1434_1440dup
NR_157171.1:n.1291_1297dup
NR_157172.1:n.1205_1211dup
NR_157173.1:n.1445_1451dup
NR_157174.1:n.1446_1452dup
NR_157175.1:n.1600_1606dup
NR_157176.1:n.1763_1769dup
NR_157177.1:n.1443_1449dup
NR_157178.1:n.1471_1477dup
XM_024446063.1:c.1400_1406dup	XP_024301831.1:p.Cys470IlefsTer?
XM_024446064.1:c.1355_1361dup	XP_024301832.1:p.Cys455IlefsTer?
XR_001742071.1:n.1633_1639dup
XR_001742072.1:n.1610_1616dup
XR_001742074.1:n.1369_1375dup
XR_001742075.1:n.1521_1527dup
XR_001742076.1:n.1598_1604dup
XR_001742077.1:n.1621_1627dup
NM_001364440.2:c.1355_1361dup	NP_001351369.1:p.Cys455IlefsTer?
NM_001364441.2:c.1355_1361dup	NP_001351370.1:p.Cys455IlefsTer?
NM_001364442.2:c.1355_1361dup	NP_001351371.1:p.Cys455IlefsTer?
NM_002454.3:c.1355_1361dup MANE Select	NP_002445.2:p.Cys455IlefsTer?
NM_024010.4:c.1355_1361dup	NP_076915.3:p.Cys455IlefsTer?
NR_134480.2:n.1434_1440dup
NR_134481.2:n.1359_1365dup
NR_134482.2:n.1294_1300dup
NR_157168.2:n.1408_1414dup
NR_157169.2:n.1268_1274dup
NR_157170.2:n.1434_1440dup
NR_157171.2:n.1291_1297dup
NR_157172.2:n.1205_1211dup
NR_157173.2:n.1445_1451dup
NR_157174.2:n.1446_1452dup
NR_157175.2:n.1600_1606dup
NR_157176.2:n.1763_1769dup
NR_157177.2:n.1443_1449dup
NR_157178.2:n.1471_1477dup