Canonical Allele Identifier: CA529533188

Gene: MTR

Linked Data

• ClinVar Variation Id: 2912716
• ClinVar RCV Id: RCV003629898
• dbSNP Id: rs1418326002
• gnomAD v2: 1-237044153-A-G
• gnomAD v3: 1-236880853-A-G
• gnomAD v4: 1-236880853-A-G
• MyVariant Identifiers: chr1:g.237044153A>G (hg19) ; chr1:g.236880853A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236880853A>G , CM000663.2:g.236880853A>G	GRCh38
NC_000001.10:g.237044153A>G , CM000663.1:g.237044153A>G	GRCh37
NC_000001.9:g.235110776A>G	NCBI36
NG_008959.1:g.90573A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366577.10:c.2676+17A>G MANE Select	ENSP00000355536.5:n.2676+17A>G
ENST00000535889.6:c.2523+17A>G	ENSP00000441845.1:n.2523+17A>G
ENST00000650888.1:c.*1718+17A>G	ENSP00000498393.1:n.*1718+17A>G
ENST00000651455.1:c.*1420+17A>G	ENSP00000498963.1:n.*1420+17A>G
ENST00000674797.2:c.2328+17A>G	ENSP00000502299.2:n.2328+17A>G
ENST00000679569.1:n.2990+17A>G
ENST00000679842.1:c.2487+17A>G	ENSP00000506109.1:n.2487+17A>G
ENST00000680454.1:n.3120+17A>G
ENST00000681102.1:c.2496+17A>G	ENSP00000505600.1:n.2496+17A>G
ENST00000681177.1:c.2238+17A>G	ENSP00000506327.1:n.2238+17A>G
ENST00000681937.1:n.2870+17A>G
ENST00000366576.3:c.1338+17A>G	ENSP00000355535.3:n.1338+17A>G
ENST00000366577.9:c.2676+17A>G	ENSP00000355536.5:n.2676+17A>G
ENST00000535889.5:c.2523+17A>G	ENSP00000441845.1:n.2523+17A>G
NM_000254.2:c.2676+17A>G	NP_000245.2:n.2676+17A>G
NM_001291939.1:c.2523+17A>G	NP_001278868.1:n.2523+17A>G
NM_001291940.1:c.1455+17A>G	NP_001278869.1:n.1455+17A>G
XM_005273141.3:c.2673+17A>G	XP_005273198.1:n.2673+17A>G
XM_006711769.2:c.2676+17A>G	XP_006711832.1:n.2676+17A>G
XM_006711770.1:c.1740+17A>G	XP_006711833.1:n.1740+17A>G
XM_011544193.1:c.2487+17A>G	XP_011542495.1:n.2487+17A>G
XM_011544194.1:c.2844+17A>G	XP_011542496.1:n.2844+17A>G
XM_005273141.5:c.2673+17A>G	XP_005273198.1:n.2673+17A>G
XM_006711770.3:c.1740+17A>G	XP_006711833.1:n.1740+17A>G
XM_011544194.3:c.2844+17A>G	XP_011542496.1:n.2844+17A>G
XM_017001329.2:c.2691+17A>G	XP_016856818.1:n.2691+17A>G
XM_017001330.2:c.2655+17A>G	XP_016856819.1:n.2655+17A>G
NM_001291940.2:c.1455+17A>G	NP_001278869.1:n.1455+17A>G
NM_000254.3:c.2676+17A>G MANE Select	NP_000245.2:n.2676+17A>G