Canonical Allele Identifier: CA345374999

Gene: MTR

Linked Data

• MyVariant Identifiers: chr1:g.237016251G>C (hg19) ; chr1:g.236852951G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236852951G>C , CM000663.2:g.236852951G>C	GRCh38
NC_000001.10:g.237016251G>C , CM000663.1:g.237016251G>C	GRCh37
NC_000001.9:g.235082874G>C	NCBI36
NG_008959.1:g.62671G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366577.10:c.1816G>C MANE Select	ENSP00000355536.5:p.Gly606Arg
ENST00000535889.6:c.1816G>C	ENSP00000441845.1:p.Gly606Arg
ENST00000650888.1:c.*858G>C	ENSP00000498393.1:n.*858G>C
ENST00000651455.1:c.*560G>C	ENSP00000498963.1:n.*560G>C
ENST00000674797.2:c.1468G>C	ENSP00000502299.2:p.Gly490Arg
ENST00000679569.1:n.2130G>C
ENST00000679842.1:c.1816G>C	ENSP00000506109.1:p.Gly606Arg
ENST00000680454.1:n.2260G>C
ENST00000681102.1:c.1636G>C	ENSP00000505600.1:p.Gly546Arg
ENST00000681177.1:c.1516-6882G>C	ENSP00000506327.1:n.1516-6882G>C
ENST00000681937.1:n.2148-6882G>C
ENST00000366576.3:c.478G>C	ENSP00000355535.3:p.Gly160Arg
ENST00000366577.9:c.1816G>C	ENSP00000355536.5:p.Gly606Arg
ENST00000463959.1:n.1835G>C
ENST00000535889.5:c.1816G>C	ENSP00000441845.1:p.Gly606Arg
NM_000254.2:c.1816G>C	NP_000245.2:p.Gly606Arg
NM_001291939.1:c.1816G>C	NP_001278868.1:p.Gly606Arg
NM_001291940.1:c.595G>C	NP_001278869.1:p.Gly199Arg
XM_005273141.3:c.1813G>C	XP_005273198.1:p.Gly605Arg
XM_006711769.2:c.1816G>C	XP_006711832.1:p.Gly606Arg
XM_006711770.1:c.880G>C	XP_006711833.1:p.Gly294Arg
XM_011544193.1:c.1816G>C	XP_011542495.1:p.Gly606Arg
XM_011544194.1:c.1984G>C	XP_011542496.1:p.Gly662Arg
XM_005273141.5:c.1813G>C	XP_005273198.1:p.Gly605Arg
XM_006711770.3:c.880G>C	XP_006711833.1:p.Gly294Arg
XM_011544194.3:c.1984G>C	XP_011542496.1:p.Gly662Arg
XM_017001329.2:c.1984G>C	XP_016856818.1:p.Gly662Arg
XM_017001330.2:c.1984G>C	XP_016856819.1:p.Gly662Arg
NM_001291940.2:c.595G>C	NP_001278869.1:p.Gly199Arg
NM_000254.3:c.1816G>C MANE Select	NP_000245.2:p.Gly606Arg