Canonical Allele Identifier: CA312749

Gene: MTR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236891204C>T , CM000663.2:g.236891204C>T	GRCh38
NC_000001.10:g.237054504C>T , CM000663.1:g.237054504C>T	GRCh37
NC_000001.9:g.235121127C>T	NCBI36
NG_008959.1:g.100924C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366577.10:c.3079C>T MANE Select	ENSP00000355536.5:p.Arg1027Trp
ENST00000535889.6:c.2926C>T	ENSP00000441845.1:p.Arg976Trp
ENST00000650888.1:c.*2121C>T	ENSP00000498393.1:n.*2121C>T
ENST00000651455.1:c.*1823C>T	ENSP00000498963.1:n.*1823C>T
ENST00000674797.2:c.2731C>T	ENSP00000502299.2:p.Arg911Trp
ENST00000679569.1:n.6206C>T
ENST00000679842.1:c.2890C>T	ENSP00000506109.1:p.Arg964Trp
ENST00000680454.1:n.6336C>T
ENST00000681102.1:c.2899C>T	ENSP00000505600.1:p.Arg967Trp
ENST00000681177.1:c.2641C>T	ENSP00000506327.1:p.Arg881Trp
ENST00000681937.1:n.3273C>T
ENST00000366576.3:c.1741C>T	ENSP00000355535.3:p.Arg581Trp
ENST00000366577.9:c.3079C>T	ENSP00000355536.5:p.Arg1027Trp
ENST00000535889.5:c.2926C>T	ENSP00000441845.1:p.Arg976Trp
NM_000254.2:c.3079C>T	NP_000245.2:p.Arg1027Trp
NM_001291939.1:c.2926C>T	NP_001278868.1:p.Arg976Trp
NM_001291940.1:c.1858C>T	NP_001278869.1:p.Arg620Trp
XM_005273141.3:c.3076C>T	XP_005273198.1:p.Arg1026Trp
XM_006711769.2:c.3079C>T	XP_006711832.1:p.Arg1027Trp
XM_006711770.1:c.2143C>T	XP_006711833.1:p.Arg715Trp
XM_011544193.1:c.2890C>T	XP_011542495.1:p.Arg964Trp
XM_011544194.1:c.3247C>T	XP_011542496.1:p.Arg1083Trp
XM_005273141.5:c.3076C>T	XP_005273198.1:p.Arg1026Trp
XM_006711770.3:c.2143C>T	XP_006711833.1:p.Arg715Trp
XM_011544194.3:c.3247C>T	XP_011542496.1:p.Arg1083Trp
XM_017001329.2:c.3094C>T	XP_016856818.1:p.Arg1032Trp
XM_017001330.2:c.3058C>T	XP_016856819.1:p.Arg1020Trp
NM_001291940.2:c.1858C>T	NP_001278869.1:p.Arg620Trp
NM_000254.3:c.3079C>T MANE Select	NP_000245.2:p.Arg1027Trp