Canonical Allele Identifier: CA529528428

Gene: MTR

Linked Data

• ClinVar Variation Id: 1639387
• ClinVar RCV Id: RCV002129011
• dbSNP Id: rs1289723374
• gnomAD v2: 1-237016237-A-G
• gnomAD v4: 1-236852937-A-G
• MyVariant Identifiers: chr1:g.237016237A>G (hg19) ; chr1:g.236852937A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236852937A>G , CM000663.2:g.236852937A>G	GRCh38
NC_000001.10:g.237016237A>G , CM000663.1:g.237016237A>G	GRCh37
NC_000001.9:g.235082860A>G	NCBI36
NG_008959.1:g.62657A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366577.10:c.1813-11A>G MANE Select	ENSP00000355536.5:n.1813-11A>G
ENST00000535889.6:c.1813-11A>G	ENSP00000441845.1:n.1813-11A>G
ENST00000650888.1:c.*855-11A>G	ENSP00000498393.1:n.*855-11A>G
ENST00000651455.1:c.*557-11A>G	ENSP00000498963.1:n.*557-11A>G
ENST00000674797.2:c.1465-11A>G	ENSP00000502299.2:n.1465-11A>G
ENST00000679569.1:n.2127-11A>G
ENST00000679842.1:c.1813-11A>G	ENSP00000506109.1:n.1813-11A>G
ENST00000680454.1:n.2257-11A>G
ENST00000681102.1:c.1633-11A>G	ENSP00000505600.1:n.1633-11A>G
ENST00000681177.1:c.1516-6896A>G	ENSP00000506327.1:n.1516-6896A>G
ENST00000681937.1:n.2148-6896A>G
ENST00000366576.3:c.475-11A>G	ENSP00000355535.3:n.475-11A>G
ENST00000366577.9:c.1813-11A>G	ENSP00000355536.5:n.1813-11A>G
ENST00000463959.1:n.1832-11A>G
ENST00000535889.5:c.1813-11A>G	ENSP00000441845.1:n.1813-11A>G
NM_000254.2:c.1813-11A>G	NP_000245.2:n.1813-11A>G
NM_001291939.1:c.1813-11A>G	NP_001278868.1:n.1813-11A>G
NM_001291940.1:c.592-11A>G	NP_001278869.1:n.592-11A>G
XM_005273141.3:c.1810-11A>G	XP_005273198.1:n.1810-11A>G
XM_006711769.2:c.1813-11A>G	XP_006711832.1:n.1813-11A>G
XM_006711770.1:c.877-11A>G	XP_006711833.1:n.877-11A>G
XM_011544193.1:c.1813-11A>G	XP_011542495.1:n.1813-11A>G
XM_011544194.1:c.1981-11A>G	XP_011542496.1:n.1981-11A>G
XM_005273141.5:c.1810-11A>G	XP_005273198.1:n.1810-11A>G
XM_006711770.3:c.877-11A>G	XP_006711833.1:n.877-11A>G
XM_011544194.3:c.1981-11A>G	XP_011542496.1:n.1981-11A>G
XM_017001329.2:c.1981-11A>G	XP_016856818.1:n.1981-11A>G
XM_017001330.2:c.1981-11A>G	XP_016856819.1:n.1981-11A>G
NM_001291940.2:c.592-11A>G	NP_001278869.1:n.592-11A>G
NM_000254.3:c.1813-11A>G MANE Select	NP_000245.2:n.1813-11A>G