Canonical Allele Identifier: CA345374661

Gene: MTR

Linked Data

• MyVariant Identifiers: chr1:g.237015843T>G (hg19) ; chr1:g.236852543T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236852543T>G , CM000663.2:g.236852543T>G	GRCh38
NC_000001.10:g.237015843T>G , CM000663.1:g.237015843T>G	GRCh37
NC_000001.9:g.235082466T>G	NCBI36
NG_008959.1:g.62263T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366577.10:c.1718T>G MANE Select	ENSP00000355536.5:p.Ile573Arg
ENST00000535889.6:c.1718T>G	ENSP00000441845.1:p.Ile573Arg
ENST00000650888.1:c.*760T>G	ENSP00000498393.1:n.*760T>G
ENST00000651455.1:c.*462T>G	ENSP00000498963.1:n.*462T>G
ENST00000674797.2:c.1370T>G	ENSP00000502299.2:p.Ile457Arg
ENST00000679569.1:n.2032T>G
ENST00000679842.1:c.1718T>G	ENSP00000506109.1:p.Ile573Arg
ENST00000680454.1:n.2162T>G
ENST00000681102.1:c.1538T>G	ENSP00000505600.1:p.Ile513Arg
ENST00000681177.1:c.1516-7290T>G	ENSP00000506327.1:n.1516-7290T>G
ENST00000681937.1:n.2148-7290T>G
ENST00000366576.3:c.380T>G	ENSP00000355535.3:p.Ile127Arg
ENST00000366577.9:c.1718T>G	ENSP00000355536.5:p.Ile573Arg
ENST00000463959.1:n.1737T>G
ENST00000535889.5:c.1718T>G	ENSP00000441845.1:p.Ile573Arg
NM_000254.2:c.1718T>G	NP_000245.2:p.Ile573Arg
NM_001291939.1:c.1718T>G	NP_001278868.1:p.Ile573Arg
NM_001291940.1:c.497T>G	NP_001278869.1:p.Ile166Arg
XM_005273141.3:c.1715T>G	XP_005273198.1:p.Ile572Arg
XM_006711769.2:c.1718T>G	XP_006711832.1:p.Ile573Arg
XM_006711770.1:c.782T>G	XP_006711833.1:p.Ile261Arg
XM_011544193.1:c.1718T>G	XP_011542495.1:p.Ile573Arg
XM_011544194.1:c.1886T>G	XP_011542496.1:p.Ile629Arg
XM_005273141.5:c.1715T>G	XP_005273198.1:p.Ile572Arg
XM_006711770.3:c.782T>G	XP_006711833.1:p.Ile261Arg
XM_011544194.3:c.1886T>G	XP_011542496.1:p.Ile629Arg
XM_017001329.2:c.1886T>G	XP_016856818.1:p.Ile629Arg
XM_017001330.2:c.1886T>G	XP_016856819.1:p.Ile629Arg
NM_001291940.2:c.497T>G	NP_001278869.1:p.Ile166Arg
NM_000254.3:c.1718T>G MANE Select	NP_000245.2:p.Ile573Arg