Canonical Allele Identifier: CA345384670

Gene: MTR

Linked Data

• gnomAD v4: 1-236885208-G-A
• MyVariant Identifiers: chr1:g.237048508G>A (hg19) ; chr1:g.236885208G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236885208G>A , CM000663.2:g.236885208G>A	GRCh38
NC_000001.10:g.237048508G>A , CM000663.1:g.237048508G>A	GRCh37
NC_000001.9:g.235115131G>A	NCBI36
NG_008959.1:g.94928G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000366577.10:c.2764G>A MANE Select	ENSP00000355536.5:p.Glu922Lys
ENST00000535889.6:c.2611G>A	ENSP00000441845.1:p.Glu871Lys
ENST00000650888.1:c.*1806G>A	ENSP00000498393.1:n.*1806G>A
ENST00000651455.1:c.*1508G>A	ENSP00000498963.1:n.*1508G>A
ENST00000674797.2:c.2416G>A	ENSP00000502299.2:p.Glu806Lys
ENST00000679569.1:n.3078G>A
ENST00000679842.1:c.2575G>A	ENSP00000506109.1:p.Glu859Lys
ENST00000680454.1:n.3208G>A
ENST00000681102.1:c.2584G>A	ENSP00000505600.1:p.Glu862Lys
ENST00000681177.1:c.2326G>A	ENSP00000506327.1:p.Glu776Lys
ENST00000681937.1:n.2958G>A
ENST00000366576.3:c.1426G>A	ENSP00000355535.3:p.Glu476Lys
ENST00000366577.9:c.2764G>A	ENSP00000355536.5:p.Glu922Lys
ENST00000535889.5:c.2611G>A	ENSP00000441845.1:p.Glu871Lys
NM_000254.2:c.2764G>A	NP_000245.2:p.Glu922Lys
NM_001291939.1:c.2611G>A	NP_001278868.1:p.Glu871Lys
NM_001291940.1:c.1543G>A	NP_001278869.1:p.Glu515Lys
XM_005273141.3:c.2761G>A	XP_005273198.1:p.Glu921Lys
XM_006711769.2:c.2764G>A	XP_006711832.1:p.Glu922Lys
XM_006711770.1:c.1828G>A	XP_006711833.1:p.Glu610Lys
XM_011544193.1:c.2575G>A	XP_011542495.1:p.Glu859Lys
XM_011544194.1:c.2932G>A	XP_011542496.1:p.Glu978Lys
XM_005273141.5:c.2761G>A	XP_005273198.1:p.Glu921Lys
XM_006711770.3:c.1828G>A	XP_006711833.1:p.Glu610Lys
XM_011544194.3:c.2932G>A	XP_011542496.1:p.Glu978Lys
XM_017001329.2:c.2779G>A	XP_016856818.1:p.Glu927Lys
XM_017001330.2:c.2743G>A	XP_016856819.1:p.Glu915Lys
NM_001291940.2:c.1543G>A	NP_001278869.1:p.Glu515Lys
NM_000254.3:c.2764G>A MANE Select	NP_000245.2:p.Glu922Lys