Canonical Allele Identifier: CA1473619

Gene: MTR

Linked Data

• ClinVar Variation Id: 384554
• ClinVar RCV Id: RCV000434863 ; RCV002062725
• dbSNP Id: rs372886393
• ExAC: 1:236966709 A / G
• gnomAD v2: 1-236966709-A-G
• gnomAD v3: 1-236803409-A-G
• gnomAD v4: 1-236803409-A-G
• MyVariant Identifiers: chr1:g.236966709A>G (hg19) ; chr1:g.236803409A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236803409A>G , CM000663.2:g.236803409A>G	GRCh38
NC_000001.10:g.236966709A>G , CM000663.1:g.236966709A>G	GRCh37
NC_000001.9:g.235033332A>G	NCBI36
NG_008959.1:g.13129A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366577.10:c.35-19A>G MANE Select	ENSP00000355536.5:n.35-19A>G
ENST00000535889.6:c.35-19A>G	ENSP00000441845.1:n.35-19A>G
ENST00000650888.1:c.35-19A>G	ENSP00000498393.1:n.35-19A>G
ENST00000651455.1:c.35-19A>G	ENSP00000498963.1:n.35-19A>G
ENST00000652435.1:c.-99-2735A>G	ENSP00000505932.1:n.-99-2735A>G
ENST00000674797.2:c.-99-2735A>G	ENSP00000502299.2:n.-99-2735A>G
ENST00000679569.1:n.352-22A>G
ENST00000679842.1:c.35-19A>G	ENSP00000506109.1:n.35-19A>G
ENST00000680454.1:n.479-19A>G
ENST00000681102.1:c.35-19A>G	ENSP00000505600.1:n.35-19A>G
ENST00000681177.1:c.35-19A>G	ENSP00000506327.1:n.35-19A>G
ENST00000366577.9:c.35-19A>G	ENSP00000355536.5:n.35-19A>G
ENST00000463959.1:n.124-19A>G
ENST00000535889.5:c.35-19A>G	ENSP00000441845.1:n.35-19A>G
NM_000254.2:c.35-19A>G	NP_000245.2:n.35-19A>G
NM_001291939.1:c.35-19A>G	NP_001278868.1:n.35-19A>G
NM_001291940.1:c.-1074-19A>G	NP_001278869.1:n.-1074-19A>G
XM_005273141.3:c.35-22A>G	XP_005273198.1:n.35-22A>G
XM_006711769.2:c.35-19A>G	XP_006711832.1:n.35-19A>G
XM_011544193.1:c.35-19A>G	XP_011542495.1:n.35-19A>G
XM_011544194.1:c.418-2735A>G	XP_011542496.1:n.418-2735A>G
XM_005273141.5:c.35-22A>G	XP_005273198.1:n.35-22A>G
XM_011544194.3:c.418-2735A>G	XP_011542496.1:n.418-2735A>G
XM_017001329.2:c.418-2735A>G	XP_016856818.1:n.418-2735A>G
XM_017001330.2:c.418-2735A>G	XP_016856819.1:n.418-2735A>G
NM_001291940.2:c.-1074-19A>G	NP_001278869.1:n.-1074-19A>G
NM_000254.3:c.35-19A>G MANE Select	NP_000245.2:n.35-19A>G