Canonical Allele Identifier: CA1473981

Gene: MTR

Linked Data

• ClinVar Variation Id: 2739346
• ClinVar RCV Id: RCV003516465
• dbSNP Id: rs776243564
• ExAC: 1:236992582 A / T
• gnomAD v2: 1-236992582-A-T
• gnomAD v4: 1-236829282-A-T
• MyVariant Identifiers: chr1:g.236992582A>T (hg19) ; chr1:g.236829282A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236829282A>T , CM000663.2:g.236829282A>T	GRCh38
NC_000001.10:g.236992582A>T , CM000663.1:g.236992582A>T	GRCh37
NC_000001.9:g.235059205A>T	NCBI36
NG_008959.1:g.39002A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366577.10:c.1075+14A>T MANE Select	ENSP00000355536.5:n.1075+14A>T
ENST00000535889.6:c.1075+14A>T	ENSP00000441845.1:n.1075+14A>T
ENST00000650888.1:c.*117+14A>T	ENSP00000498393.1:n.*117+14A>T
ENST00000651455.1:c.1075+14A>T	ENSP00000498963.1:n.1075+14A>T
ENST00000674797.2:c.727+14A>T	ENSP00000502299.2:n.727+14A>T
ENST00000679569.1:n.1389+14A>T
ENST00000679842.1:c.1075+14A>T	ENSP00000506109.1:n.1075+14A>T
ENST00000680454.1:n.1519+14A>T
ENST00000681102.1:c.1075+14A>T	ENSP00000505600.1:n.1075+14A>T
ENST00000681177.1:c.1075+14A>T	ENSP00000506327.1:n.1075+14A>T
ENST00000681937.1:n.1707+14A>T
ENST00000366577.9:c.1075+14A>T	ENSP00000355536.5:n.1075+14A>T
ENST00000463959.1:n.1094+14A>T
ENST00000535889.5:c.1075+14A>T	ENSP00000441845.1:n.1075+14A>T
NM_000254.2:c.1075+14A>T	NP_000245.2:n.1075+14A>T
NM_001291939.1:c.1075+14A>T	NP_001278868.1:n.1075+14A>T
NM_001291940.1:c.-34+14A>T	NP_001278869.1:n.-34+14A>T
XM_005273141.3:c.1072+14A>T	XP_005273198.1:n.1072+14A>T
XM_006711769.2:c.1075+14A>T	XP_006711832.1:n.1075+14A>T
XM_006711770.1:c.139+14A>T	XP_006711833.1:n.139+14A>T
XM_011544193.1:c.1075+14A>T	XP_011542495.1:n.1075+14A>T
XM_011544194.1:c.1243+14A>T	XP_011542496.1:n.1243+14A>T
XM_005273141.5:c.1072+14A>T	XP_005273198.1:n.1072+14A>T
XM_006711770.3:c.139+14A>T	XP_006711833.1:n.139+14A>T
XM_011544194.3:c.1243+14A>T	XP_011542496.1:n.1243+14A>T
XM_017001329.2:c.1243+14A>T	XP_016856818.1:n.1243+14A>T
XM_017001330.2:c.1243+14A>T	XP_016856819.1:n.1243+14A>T
NM_001291940.2:c.-34+14A>T	NP_001278869.1:n.-34+14A>T
NM_000254.3:c.1075+14A>T MANE Select	NP_000245.2:n.1075+14A>T