Canonical Allele Identifier: CA2580073154

Gene: MTRR

Linked Data

• ClinVar Variation Id: 2035984
• ClinVar RCV Id: RCV002881842

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7885717dup , CM000667.2:g.7885717dup	GRCh38
NC_000005.9:g.7885830dup , CM000667.1:g.7885830dup	GRCh37
NC_000005.8:g.7938830dup	NCBI36
NG_008856.1:g.21614dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440940.7:c.920dup MANE Select	ENSP00000402510.2:p.Tyr307Ter
ENST00000264668.6:c.1001dup	ENSP00000264668.2:p.Tyr334Ter
ENST00000440940.6:c.920dup	ENSP00000402510.2:p.Tyr307Ter
ENST00000508101.5:n.160dup
ENST00000510525.5:c.945dup
ENST00000511461.5:c.833dup
ENST00000513439.5:c.*627dup	ENSP00000426710.1:n.*627dup
NM_002454.2:c.920dup	NP_002445.2:p.Tyr307Ter
NM_024010.2:c.1001dup	NP_076915.2:p.Tyr334Ter
XM_006714474.2:c.1001dup	XP_006714537.1:p.Tyr334Ter
XM_011514043.1:c.1001dup	XP_011512345.1:p.Tyr334Ter
XM_011514044.1:c.920dup	XP_011512346.1:p.Tyr307Ter
XM_011514045.1:c.1141dup	XP_011512347.1:p.Ile381AsnfsTer?
XR_241702.1:n.1023dup
XR_241703.1:n.1016dup
XR_925614.1:n.1023dup
XR_925615.1:n.1023dup
NM_001364440.1:c.920dup	NP_001351369.1:p.Tyr307Ter
NM_001364441.1:c.920dup	NP_001351370.1:p.Tyr307Ter
NM_001364442.1:c.920dup	NP_001351371.1:p.Tyr307Ter
NM_024010.3:c.920dup	NP_076915.3:p.Tyr307Ter
NR_134480.1:n.1043dup
NR_134481.1:n.1057dup
NR_134482.1:n.903dup
NR_157168.1:n.973dup
NR_157169.1:n.833dup
NR_157170.1:n.999dup
NR_157171.1:n.833dup
NR_157172.1:n.859dup
NR_157173.1:n.987dup
NR_157174.1:n.859dup
NR_157175.1:n.1013dup
NR_157176.1:n.1153dup
NR_157177.1:n.1008dup
NR_157178.1:n.1013dup
XM_024446063.1:c.965dup	XP_024301831.1:p.Tyr322Ter
XM_024446064.1:c.920dup	XP_024301832.1:p.Tyr307Ter
XR_001742071.1:n.1023dup
XR_001742072.1:n.1023dup
XR_001742074.1:n.1023dup
XR_001742075.1:n.1023dup
XR_001742076.1:n.1163dup
XR_001742077.1:n.1163dup
NM_001364440.2:c.920dup	NP_001351369.1:p.Tyr307Ter
NM_001364441.2:c.920dup	NP_001351370.1:p.Tyr307Ter
NM_001364442.2:c.920dup	NP_001351371.1:p.Tyr307Ter
NM_002454.3:c.920dup MANE Select	NP_002445.2:p.Tyr307Ter
NM_024010.4:c.920dup	NP_076915.3:p.Tyr307Ter
NR_134480.2:n.999dup
NR_134481.2:n.1013dup
NR_134482.2:n.859dup
NR_157168.2:n.973dup
NR_157169.2:n.833dup
NR_157170.2:n.999dup
NR_157171.2:n.833dup
NR_157172.2:n.859dup
NR_157173.2:n.987dup
NR_157174.2:n.859dup
NR_157175.2:n.1013dup
NR_157176.2:n.1153dup
NR_157177.2:n.1008dup
NR_157178.2:n.1013dup