Canonical Allele Identifier: CA345384633

Gene: MTR

Linked Data

• MyVariant Identifiers: chr1:g.237048503A>T (hg19) ; chr1:g.236885203A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236885203A>T , CM000663.2:g.236885203A>T	GRCh38
NC_000001.10:g.237048503A>T , CM000663.1:g.237048503A>T	GRCh37
NC_000001.9:g.235115126A>T	NCBI36
NG_008959.1:g.94923A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366577.10:c.2759A>T MANE Select	ENSP00000355536.5:p.His920Leu
ENST00000535889.6:c.2606A>T	ENSP00000441845.1:p.His869Leu
ENST00000650888.1:c.*1801A>T	ENSP00000498393.1:n.*1801A>T
ENST00000651455.1:c.*1503A>T	ENSP00000498963.1:n.*1503A>T
ENST00000674797.2:c.2411A>T	ENSP00000502299.2:p.His804Leu
ENST00000679569.1:n.3073A>T
ENST00000679842.1:c.2570A>T	ENSP00000506109.1:p.His857Leu
ENST00000680454.1:n.3203A>T
ENST00000681102.1:c.2579A>T	ENSP00000505600.1:p.His860Leu
ENST00000681177.1:c.2321A>T	ENSP00000506327.1:p.His774Leu
ENST00000681937.1:n.2953A>T
ENST00000366576.3:c.1421A>T	ENSP00000355535.3:p.His474Leu
ENST00000366577.9:c.2759A>T	ENSP00000355536.5:p.His920Leu
ENST00000535889.5:c.2606A>T	ENSP00000441845.1:p.His869Leu
NM_000254.2:c.2759A>T	NP_000245.2:p.His920Leu
NM_001291939.1:c.2606A>T	NP_001278868.1:p.His869Leu
NM_001291940.1:c.1538A>T	NP_001278869.1:p.His513Leu
XM_005273141.3:c.2756A>T	XP_005273198.1:p.His919Leu
XM_006711769.2:c.2759A>T	XP_006711832.1:p.His920Leu
XM_006711770.1:c.1823A>T	XP_006711833.1:p.His608Leu
XM_011544193.1:c.2570A>T	XP_011542495.1:p.His857Leu
XM_011544194.1:c.2927A>T	XP_011542496.1:p.His976Leu
XM_005273141.5:c.2756A>T	XP_005273198.1:p.His919Leu
XM_006711770.3:c.1823A>T	XP_006711833.1:p.His608Leu
XM_011544194.3:c.2927A>T	XP_011542496.1:p.His976Leu
XM_017001329.2:c.2774A>T	XP_016856818.1:p.His925Leu
XM_017001330.2:c.2738A>T	XP_016856819.1:p.His913Leu
NM_001291940.2:c.1538A>T	NP_001278869.1:p.His513Leu
NM_000254.3:c.2759A>T MANE Select	NP_000245.2:p.His920Leu