Canonical Allele Identifier: CA345375030

Gene: MTR

Linked Data

• gnomAD v4: 1-236852963-G-A
• MyVariant Identifiers: chr1:g.237016263G>A (hg19) ; chr1:g.236852963G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236852963G>A , CM000663.2:g.236852963G>A	GRCh38
NC_000001.10:g.237016263G>A , CM000663.1:g.237016263G>A	GRCh37
NC_000001.9:g.235082886G>A	NCBI36
NG_008959.1:g.62683G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366577.10:c.1828G>A MANE Select	ENSP00000355536.5:p.Gly610Arg
ENST00000535889.6:c.1828G>A	ENSP00000441845.1:p.Gly610Arg
ENST00000650888.1:c.*870G>A	ENSP00000498393.1:n.*870G>A
ENST00000651455.1:c.*572G>A	ENSP00000498963.1:n.*572G>A
ENST00000674797.2:c.1480G>A	ENSP00000502299.2:p.Gly494Arg
ENST00000679569.1:n.2142G>A
ENST00000679842.1:c.1828G>A	ENSP00000506109.1:p.Gly610Arg
ENST00000680454.1:n.2272G>A
ENST00000681102.1:c.1648G>A	ENSP00000505600.1:p.Gly550Arg
ENST00000681177.1:c.1516-6870G>A	ENSP00000506327.1:n.1516-6870G>A
ENST00000681937.1:n.2148-6870G>A
ENST00000366576.3:c.490G>A	ENSP00000355535.3:p.Gly164Arg
ENST00000366577.9:c.1828G>A	ENSP00000355536.5:p.Gly610Arg
ENST00000463959.1:n.1847G>A
ENST00000535889.5:c.1828G>A	ENSP00000441845.1:p.Gly610Arg
NM_000254.2:c.1828G>A	NP_000245.2:p.Gly610Arg
NM_001291939.1:c.1828G>A	NP_001278868.1:p.Gly610Arg
NM_001291940.1:c.607G>A	NP_001278869.1:p.Gly203Arg
XM_005273141.3:c.1825G>A	XP_005273198.1:p.Gly609Arg
XM_006711769.2:c.1828G>A	XP_006711832.1:p.Gly610Arg
XM_006711770.1:c.892G>A	XP_006711833.1:p.Gly298Arg
XM_011544193.1:c.1828G>A	XP_011542495.1:p.Gly610Arg
XM_011544194.1:c.1996G>A	XP_011542496.1:p.Gly666Arg
XM_005273141.5:c.1825G>A	XP_005273198.1:p.Gly609Arg
XM_006711770.3:c.892G>A	XP_006711833.1:p.Gly298Arg
XM_011544194.3:c.1996G>A	XP_011542496.1:p.Gly666Arg
XM_017001329.2:c.1996G>A	XP_016856818.1:p.Gly666Arg
XM_017001330.2:c.1996G>A	XP_016856819.1:p.Gly666Arg
NM_001291940.2:c.607G>A	NP_001278869.1:p.Gly203Arg
NM_000254.3:c.1828G>A MANE Select	NP_000245.2:p.Gly610Arg