Canonical Allele Identifier: CA345384378

Gene: MTR

Linked Data

• MyVariant Identifiers: chr1:g.237048433T>G (hg19) ; chr1:g.236885133T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236885133T>G , CM000663.2:g.236885133T>G	GRCh38
NC_000001.10:g.237048433T>G , CM000663.1:g.237048433T>G	GRCh37
NC_000001.9:g.235115056T>G	NCBI36
NG_008959.1:g.94853T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366577.10:c.2689T>G MANE Select	ENSP00000355536.5:p.Leu897Val
ENST00000535889.6:c.2536T>G	ENSP00000441845.1:p.Leu846Val
ENST00000650888.1:c.*1731T>G	ENSP00000498393.1:n.*1731T>G
ENST00000651455.1:c.*1433T>G	ENSP00000498963.1:n.*1433T>G
ENST00000674797.2:c.2341T>G	ENSP00000502299.2:p.Leu781Val
ENST00000679569.1:n.3003T>G
ENST00000679842.1:c.2500T>G	ENSP00000506109.1:p.Leu834Val
ENST00000680454.1:n.3133T>G
ENST00000681102.1:c.2509T>G	ENSP00000505600.1:p.Leu837Val
ENST00000681177.1:c.2251T>G	ENSP00000506327.1:p.Leu751Val
ENST00000681937.1:n.2883T>G
ENST00000366576.3:c.1351T>G	ENSP00000355535.3:p.Leu451Val
ENST00000366577.9:c.2689T>G	ENSP00000355536.5:p.Leu897Val
ENST00000535889.5:c.2536T>G	ENSP00000441845.1:p.Leu846Val
NM_000254.2:c.2689T>G	NP_000245.2:p.Leu897Val
NM_001291939.1:c.2536T>G	NP_001278868.1:p.Leu846Val
NM_001291940.1:c.1468T>G	NP_001278869.1:p.Leu490Val
XM_005273141.3:c.2686T>G	XP_005273198.1:p.Leu896Val
XM_006711769.2:c.2689T>G	XP_006711832.1:p.Leu897Val
XM_006711770.1:c.1753T>G	XP_006711833.1:p.Leu585Val
XM_011544193.1:c.2500T>G	XP_011542495.1:p.Leu834Val
XM_011544194.1:c.2857T>G	XP_011542496.1:p.Leu953Val
XM_005273141.5:c.2686T>G	XP_005273198.1:p.Leu896Val
XM_006711770.3:c.1753T>G	XP_006711833.1:p.Leu585Val
XM_011544194.3:c.2857T>G	XP_011542496.1:p.Leu953Val
XM_017001329.2:c.2704T>G	XP_016856818.1:p.Leu902Val
XM_017001330.2:c.2668T>G	XP_016856819.1:p.Leu890Val
NM_001291940.2:c.1468T>G	NP_001278869.1:p.Leu490Val
NM_000254.3:c.2689T>G MANE Select	NP_000245.2:p.Leu897Val