Canonical Allele Identifier: CA423816215

Gene: MTR

Linked Data

• MyVariant Identifiers: chr1:g.237044130G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236880830G>C , CM000663.2:g.236880830G>C	GRCh38
NC_000001.10:g.237044130G>C , CM000663.1:g.237044130G>C	GRCh37
NC_000001.9:g.235110753G>C	NCBI36
NG_008959.1:g.90550G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000366577.10:c.2670G>C MANE Select	ENSP00000355536.5:p.Val890=
ENST00000535889.6:c.2517G>C	ENSP00000441845.1:p.Val839=
ENST00000650888.1:c.*1712G>C	ENSP00000498393.1:n.*1712G>C
ENST00000651455.1:c.*1414G>C	ENSP00000498963.1:n.*1414G>C
ENST00000674797.2:c.2322G>C	ENSP00000502299.2:p.Val774=
ENST00000679569.1:n.2984G>C
ENST00000679842.1:c.2481G>C	ENSP00000506109.1:p.Val827=
ENST00000680454.1:n.3114G>C
ENST00000681102.1:c.2490G>C	ENSP00000505600.1:p.Val830=
ENST00000681177.1:c.2232G>C	ENSP00000506327.1:p.Val744=
ENST00000681937.1:n.2864G>C
ENST00000366576.3:c.1332G>C	ENSP00000355535.3:p.Val444=
ENST00000366577.9:c.2670G>C	ENSP00000355536.5:p.Val890=
ENST00000535889.5:c.2517G>C	ENSP00000441845.1:p.Val839=
NM_000254.2:c.2670G>C	NP_000245.2:p.Val890=
NM_001291939.1:c.2517G>C	NP_001278868.1:p.Val839=
NM_001291940.1:c.1449G>C	NP_001278869.1:p.Val483=
XM_005273141.3:c.2667G>C	XP_005273198.1:p.Val889=
XM_006711769.2:c.2670G>C	XP_006711832.1:p.Val890=
XM_006711770.1:c.1734G>C	XP_006711833.1:p.Val578=
XM_011544193.1:c.2481G>C	XP_011542495.1:p.Val827=
XM_011544194.1:c.2838G>C	XP_011542496.1:p.Val946=
XM_005273141.5:c.2667G>C	XP_005273198.1:p.Val889=
XM_006711770.3:c.1734G>C	XP_006711833.1:p.Val578=
XM_011544194.3:c.2838G>C	XP_011542496.1:p.Val946=
XM_017001329.2:c.2685G>C	XP_016856818.1:p.Val895=
XM_017001330.2:c.2649G>C	XP_016856819.1:p.Val883=
NM_001291940.2:c.1449G>C	NP_001278869.1:p.Val483=
NM_000254.3:c.2670G>C MANE Select	NP_000245.2:p.Val890=