Canonical Allele Identifier: CA1474466

Gene: MTR

Linked Data

• dbSNP Id: rs201521817
• ExAC: 1:237044123 A / G
• gnomAD v2: 1-237044123-A-G
• gnomAD v4: 1-236880823-A-G
• MyVariant Identifiers: chr1:g.237044123A>G (hg19) ; chr1:g.236880823A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236880823A>G , CM000663.2:g.236880823A>G	GRCh38
NC_000001.10:g.237044123A>G , CM000663.1:g.237044123A>G	GRCh37
NC_000001.9:g.235110746A>G	NCBI36
NG_008959.1:g.90543A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366577.10:c.2663A>G MANE Select	ENSP00000355536.5:p.Lys888Arg
ENST00000535889.6:c.2510A>G	ENSP00000441845.1:p.Lys837Arg
ENST00000650888.1:c.*1705A>G	ENSP00000498393.1:n.*1705A>G
ENST00000651455.1:c.*1407A>G	ENSP00000498963.1:n.*1407A>G
ENST00000674797.2:c.2315A>G	ENSP00000502299.2:p.Lys772Arg
ENST00000679569.1:n.2977A>G
ENST00000679842.1:c.2474A>G	ENSP00000506109.1:p.Lys825Arg
ENST00000680454.1:n.3107A>G
ENST00000681102.1:c.2483A>G	ENSP00000505600.1:p.Lys828Arg
ENST00000681177.1:c.2225A>G	ENSP00000506327.1:p.Lys742Arg
ENST00000681937.1:n.2857A>G
ENST00000366576.3:c.1325A>G	ENSP00000355535.3:p.Lys442Arg
ENST00000366577.9:c.2663A>G	ENSP00000355536.5:p.Lys888Arg
ENST00000535889.5:c.2510A>G	ENSP00000441845.1:p.Lys837Arg
NM_000254.2:c.2663A>G	NP_000245.2:p.Lys888Arg
NM_001291939.1:c.2510A>G	NP_001278868.1:p.Lys837Arg
NM_001291940.1:c.1442A>G	NP_001278869.1:p.Lys481Arg
XM_005273141.3:c.2660A>G	XP_005273198.1:p.Lys887Arg
XM_006711769.2:c.2663A>G	XP_006711832.1:p.Lys888Arg
XM_006711770.1:c.1727A>G	XP_006711833.1:p.Lys576Arg
XM_011544193.1:c.2474A>G	XP_011542495.1:p.Lys825Arg
XM_011544194.1:c.2831A>G	XP_011542496.1:p.Lys944Arg
XM_005273141.5:c.2660A>G	XP_005273198.1:p.Lys887Arg
XM_006711770.3:c.1727A>G	XP_006711833.1:p.Lys576Arg
XM_011544194.3:c.2831A>G	XP_011542496.1:p.Lys944Arg
XM_017001329.2:c.2678A>G	XP_016856818.1:p.Lys893Arg
XM_017001330.2:c.2642A>G	XP_016856819.1:p.Lys881Arg
NM_001291940.2:c.1442A>G	NP_001278869.1:p.Lys481Arg
NM_000254.3:c.2663A>G MANE Select	NP_000245.2:p.Lys888Arg