Canonical Allele Identifier: CA1013686988

Gene: MTR

Linked Data

• dbSNP Id: rs1663982836
• gnomAD v3: 1-236852737-T-A
• gnomAD v4: 1-236852737-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236852737T>A , CM000663.2:g.236852737T>A	GRCh38
NC_000001.10:g.237016037T>A , CM000663.1:g.237016037T>A	GRCh37
NC_000001.9:g.235082660T>A	NCBI36
NG_008959.1:g.62457T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366577.10:c.1812+100T>A MANE Select	ENSP00000355536.5:n.1812+100T>A
ENST00000535889.6:c.1812+100T>A	ENSP00000441845.1:n.1812+100T>A
ENST00000650888.1:c.*854+100T>A	ENSP00000498393.1:n.*854+100T>A
ENST00000651455.1:c.*556+100T>A	ENSP00000498963.1:n.*556+100T>A
ENST00000674797.2:c.1464+100T>A	ENSP00000502299.2:n.1464+100T>A
ENST00000679569.1:n.2126+100T>A
ENST00000679842.1:c.1812+100T>A	ENSP00000506109.1:n.1812+100T>A
ENST00000680454.1:n.2256+100T>A
ENST00000681102.1:c.1632+100T>A	ENSP00000505600.1:n.1632+100T>A
ENST00000681177.1:c.1516-7096T>A	ENSP00000506327.1:n.1516-7096T>A
ENST00000681937.1:n.2148-7096T>A
ENST00000366576.3:c.474+100T>A	ENSP00000355535.3:n.474+100T>A
ENST00000366577.9:c.1812+100T>A	ENSP00000355536.5:n.1812+100T>A
ENST00000463959.1:n.1831+100T>A
ENST00000535889.5:c.1812+100T>A	ENSP00000441845.1:n.1812+100T>A
NM_000254.2:c.1812+100T>A	NP_000245.2:n.1812+100T>A
NM_001291939.1:c.1812+100T>A	NP_001278868.1:n.1812+100T>A
NM_001291940.1:c.591+100T>A	NP_001278869.1:n.591+100T>A
XM_005273141.3:c.1809+100T>A	XP_005273198.1:n.1809+100T>A
XM_006711769.2:c.1812+100T>A	XP_006711832.1:n.1812+100T>A
XM_006711770.1:c.876+100T>A	XP_006711833.1:n.876+100T>A
XM_011544193.1:c.1812+100T>A	XP_011542495.1:n.1812+100T>A
XM_011544194.1:c.1980+100T>A	XP_011542496.1:n.1980+100T>A
XM_005273141.5:c.1809+100T>A	XP_005273198.1:n.1809+100T>A
XM_006711770.3:c.876+100T>A	XP_006711833.1:n.876+100T>A
XM_011544194.3:c.1980+100T>A	XP_011542496.1:n.1980+100T>A
XM_017001329.2:c.1980+100T>A	XP_016856818.1:n.1980+100T>A
XM_017001330.2:c.1980+100T>A	XP_016856819.1:n.1980+100T>A
NM_001291940.2:c.591+100T>A	NP_001278869.1:n.591+100T>A
NM_000254.3:c.1812+100T>A MANE Select	NP_000245.2:n.1812+100T>A