Canonical Allele Identifier: CA2697555047

Gene: MTR

Linked Data

• ClinVar Variation Id: 2708459
• ClinVar RCV Id: RCV003515588

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236885226G>A , CM000663.2:g.236885226G>A	GRCh38
NC_000001.10:g.237048526G>A , CM000663.1:g.237048526G>A	GRCh37
NC_000001.9:g.235115149G>A	NCBI36
NG_008959.1:g.94946G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366577.10:c.2775+7G>A MANE Select	ENSP00000355536.5:n.2775+7G>A
ENST00000535889.6:c.2622+7G>A	ENSP00000441845.1:n.2622+7G>A
ENST00000650888.1:c.*1817+7G>A	ENSP00000498393.1:n.*1817+7G>A
ENST00000651455.1:c.*1519+7G>A	ENSP00000498963.1:n.*1519+7G>A
ENST00000674797.2:c.2427+7G>A	ENSP00000502299.2:n.2427+7G>A
ENST00000679569.1:n.3089+7G>A
ENST00000679842.1:c.2586+7G>A	ENSP00000506109.1:n.2586+7G>A
ENST00000680454.1:n.3219+7G>A
ENST00000681102.1:c.2595+7G>A	ENSP00000505600.1:n.2595+7G>A
ENST00000681177.1:c.2337+7G>A	ENSP00000506327.1:n.2337+7G>A
ENST00000681937.1:n.2969+7G>A
ENST00000366576.3:c.1437+7G>A	ENSP00000355535.3:n.1437+7G>A
ENST00000366577.9:c.2775+7G>A	ENSP00000355536.5:n.2775+7G>A
ENST00000535889.5:c.2622+7G>A	ENSP00000441845.1:n.2622+7G>A
NM_000254.2:c.2775+7G>A	NP_000245.2:n.2775+7G>A
NM_001291939.1:c.2622+7G>A	NP_001278868.1:n.2622+7G>A
NM_001291940.1:c.1554+7G>A	NP_001278869.1:n.1554+7G>A
XM_005273141.3:c.2772+7G>A	XP_005273198.1:n.2772+7G>A
XM_006711769.2:c.2775+7G>A	XP_006711832.1:n.2775+7G>A
XM_006711770.1:c.1839+7G>A	XP_006711833.1:n.1839+7G>A
XM_011544193.1:c.2586+7G>A	XP_011542495.1:n.2586+7G>A
XM_011544194.1:c.2943+7G>A	XP_011542496.1:n.2943+7G>A
XM_005273141.5:c.2772+7G>A	XP_005273198.1:n.2772+7G>A
XM_006711770.3:c.1839+7G>A	XP_006711833.1:n.1839+7G>A
XM_011544194.3:c.2943+7G>A	XP_011542496.1:n.2943+7G>A
XM_017001329.2:c.2790+7G>A	XP_016856818.1:n.2790+7G>A
XM_017001330.2:c.2754+7G>A	XP_016856819.1:n.2754+7G>A
NM_001291940.2:c.1554+7G>A	NP_001278869.1:n.1554+7G>A
NM_000254.3:c.2775+7G>A MANE Select	NP_000245.2:n.2775+7G>A