Canonical Allele Identifier: CA10610492

Gene: MTR

Linked Data

• ClinVar Variation Id: 296549
• ClinVar RCV Id: RCV000352335 ; RCV000428524
• dbSNP Id: rs886046217
• gnomAD v2: 1-236966874-A-C
• gnomAD v4: 1-236803574-A-C
• MyVariant Identifiers: chr1:g.236966874A>C (hg19) ; chr1:g.236803574A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236803574A>C , CM000663.2:g.236803574A>C	GRCh38
NC_000001.10:g.236966874A>C , CM000663.1:g.236966874A>C	GRCh37
NC_000001.9:g.235033497A>C	NCBI36
NG_008959.1:g.13294A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000366577.10:c.181A>C MANE Select	ENSP00000355536.5:p.Arg61=
ENST00000535889.6:c.181A>C	ENSP00000441845.1:p.Arg61=
ENST00000650888.1:c.181A>C	ENSP00000498393.1:p.Arg61=
ENST00000651455.1:c.181A>C	ENSP00000498963.1:p.Arg61=
ENST00000652435.1:c.-99-2570A>C	ENSP00000505932.1:n.-99-2570A>C
ENST00000674797.2:c.-99-2570A>C	ENSP00000502299.2:n.-99-2570A>C
ENST00000679569.1:n.495A>C
ENST00000679842.1:c.181A>C	ENSP00000506109.1:p.Arg61=
ENST00000680454.1:n.625A>C
ENST00000681102.1:c.181A>C	ENSP00000505600.1:p.Arg61=
ENST00000681177.1:c.181A>C	ENSP00000506327.1:p.Arg61=
ENST00000366577.9:c.181A>C	ENSP00000355536.5:p.Arg61=
ENST00000463959.1:n.270A>C
ENST00000535889.5:c.181A>C	ENSP00000441845.1:p.Arg61=
NM_000254.2:c.181A>C	NP_000245.2:p.Arg61=
NM_001291939.1:c.181A>C	NP_001278868.1:p.Arg61=
NM_001291940.1:c.-928A>C	NP_001278869.1:n.-928A>C
XM_005273141.3:c.178A>C	XP_005273198.1:p.Arg60=
XM_006711769.2:c.181A>C	XP_006711832.1:p.Arg61=
XM_011544193.1:c.181A>C	XP_011542495.1:p.Arg61=
XM_011544194.1:c.418-2570A>C	XP_011542496.1:n.418-2570A>C
XM_005273141.5:c.178A>C	XP_005273198.1:p.Arg60=
XM_011544194.3:c.418-2570A>C	XP_011542496.1:n.418-2570A>C
XM_017001329.2:c.418-2570A>C	XP_016856818.1:n.418-2570A>C
XM_017001330.2:c.418-2570A>C	XP_016856819.1:n.418-2570A>C
NM_001291940.2:c.-928A>C	NP_001278869.1:n.-928A>C
NM_000254.3:c.181A>C MANE Select	NP_000245.2:p.Arg61=