Canonical Allele Identifier: CA345383293

Gene: MTR

Linked Data

• ClinVar Variation Id: 2131437
• ClinVar RCV Id: RCV003048200
• dbSNP Id: rs1665691972
• gnomAD v3: 1-236880831-G-A
• gnomAD v4: 1-236880831-G-A
• MyVariant Identifiers: chr1:g.237044131G>A (hg19) ; chr1:g.236880831G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236880831G>A , CM000663.2:g.236880831G>A	GRCh38
NC_000001.10:g.237044131G>A , CM000663.1:g.237044131G>A	GRCh37
NC_000001.9:g.235110754G>A	NCBI36
NG_008959.1:g.90551G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000366577.10:c.2671G>A MANE Select	ENSP00000355536.5:p.Val891Met
ENST00000535889.6:c.2518G>A	ENSP00000441845.1:p.Val840Met
ENST00000650888.1:c.*1713G>A	ENSP00000498393.1:n.*1713G>A
ENST00000651455.1:c.*1415G>A	ENSP00000498963.1:n.*1415G>A
ENST00000674797.2:c.2323G>A	ENSP00000502299.2:p.Val775Met
ENST00000679569.1:n.2985G>A
ENST00000679842.1:c.2482G>A	ENSP00000506109.1:p.Val828Met
ENST00000680454.1:n.3115G>A
ENST00000681102.1:c.2491G>A	ENSP00000505600.1:p.Val831Met
ENST00000681177.1:c.2233G>A	ENSP00000506327.1:p.Val745Met
ENST00000681937.1:n.2865G>A
ENST00000366576.3:c.1333G>A	ENSP00000355535.3:p.Val445Met
ENST00000366577.9:c.2671G>A	ENSP00000355536.5:p.Val891Met
ENST00000535889.5:c.2518G>A	ENSP00000441845.1:p.Val840Met
NM_000254.2:c.2671G>A	NP_000245.2:p.Val891Met
NM_001291939.1:c.2518G>A	NP_001278868.1:p.Val840Met
NM_001291940.1:c.1450G>A	NP_001278869.1:p.Val484Met
XM_005273141.3:c.2668G>A	XP_005273198.1:p.Val890Met
XM_006711769.2:c.2671G>A	XP_006711832.1:p.Val891Met
XM_006711770.1:c.1735G>A	XP_006711833.1:p.Val579Met
XM_011544193.1:c.2482G>A	XP_011542495.1:p.Val828Met
XM_011544194.1:c.2839G>A	XP_011542496.1:p.Val947Met
XM_005273141.5:c.2668G>A	XP_005273198.1:p.Val890Met
XM_006711770.3:c.1735G>A	XP_006711833.1:p.Val579Met
XM_011544194.3:c.2839G>A	XP_011542496.1:p.Val947Met
XM_017001329.2:c.2686G>A	XP_016856818.1:p.Val896Met
XM_017001330.2:c.2650G>A	XP_016856819.1:p.Val884Met
NM_001291940.2:c.1450G>A	NP_001278869.1:p.Val484Met
NM_000254.3:c.2671G>A MANE Select	NP_000245.2:p.Val891Met