Canonical Allele Identifier: CA1473959

Gene: MTR

Linked Data

• dbSNP Id: rs759488694
• ExAC: 1:236992493 A / G
• gnomAD v2: 1-236992493-A-G
• gnomAD v4: 1-236829193-A-G
• MyVariant Identifiers: chr1:g.236992493A>G (hg19) ; chr1:g.236829193A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236829193A>G , CM000663.2:g.236829193A>G	GRCh38
NC_000001.10:g.236992493A>G , CM000663.1:g.236992493A>G	GRCh37
NC_000001.9:g.235059116A>G	NCBI36
NG_008959.1:g.38913A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366577.10:c.1000A>G MANE Select	ENSP00000355536.5:p.Ile334Val
ENST00000535889.6:c.1000A>G	ENSP00000441845.1:p.Ile334Val
ENST00000650888.1:c.*42A>G	ENSP00000498393.1:n.*42A>G
ENST00000651455.1:c.1000A>G	ENSP00000498963.1:p.Ile334Val
ENST00000674797.2:c.652A>G	ENSP00000502299.2:p.Ile218Val
ENST00000679569.1:n.1314A>G
ENST00000679842.1:c.1000A>G	ENSP00000506109.1:p.Ile334Val
ENST00000680454.1:n.1444A>G
ENST00000681102.1:c.1000A>G	ENSP00000505600.1:p.Ile334Val
ENST00000681177.1:c.1000A>G	ENSP00000506327.1:p.Ile334Val
ENST00000681937.1:n.1632A>G
ENST00000366577.9:c.1000A>G	ENSP00000355536.5:p.Ile334Val
ENST00000463959.1:n.1019A>G
ENST00000535889.5:c.1000A>G	ENSP00000441845.1:p.Ile334Val
NM_000254.2:c.1000A>G	NP_000245.2:p.Ile334Val
NM_001291939.1:c.1000A>G	NP_001278868.1:p.Ile334Val
NM_001291940.1:c.-109A>G	NP_001278869.1:n.-109A>G
XM_005273141.3:c.997A>G	XP_005273198.1:p.Ile333Val
XM_006711769.2:c.1000A>G	XP_006711832.1:p.Ile334Val
XM_006711770.1:c.64A>G	XP_006711833.1:p.Ile22Val
XM_011544193.1:c.1000A>G	XP_011542495.1:p.Ile334Val
XM_011544194.1:c.1168A>G	XP_011542496.1:p.Ile390Val
XM_005273141.5:c.997A>G	XP_005273198.1:p.Ile333Val
XM_006711770.3:c.64A>G	XP_006711833.1:p.Ile22Val
XM_011544194.3:c.1168A>G	XP_011542496.1:p.Ile390Val
XM_017001329.2:c.1168A>G	XP_016856818.1:p.Ile390Val
XM_017001330.2:c.1168A>G	XP_016856819.1:p.Ile390Val
NM_001291940.2:c.-109A>G	NP_001278869.1:n.-109A>G
NM_000254.3:c.1000A>G MANE Select	NP_000245.2:p.Ile334Val