Canonical Allele Identifier: CA10609644

Gene: MTR

Linked Data

• ClinVar Variation Id: 296551
• ClinVar RCV Id: RCV000337000
• dbSNP Id: rs886046218
• gnomAD v4: 1-236808780-A-C
• MyVariant Identifiers: chr1:g.236972080A>C (hg19) ; chr1:g.236808780A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236808780A>C , CM000663.2:g.236808780A>C	GRCh38
NC_000001.10:g.236972080A>C , CM000663.1:g.236972080A>C	GRCh37
NC_000001.9:g.235038703A>C	NCBI36
NG_008959.1:g.18500A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366577.10:c.409+7A>C MANE Select	ENSP00000355536.5:n.409+7A>C
ENST00000535889.6:c.409+7A>C	ENSP00000441845.1:n.409+7A>C
ENST00000650888.1:c.409+7A>C	ENSP00000498393.1:n.409+7A>C
ENST00000651455.1:c.409+7A>C	ENSP00000498963.1:n.409+7A>C
ENST00000652435.1:c.61+7A>C	ENSP00000505932.1:n.61+7A>C
ENST00000674797.2:c.61+7A>C	ENSP00000502299.2:n.61+7A>C
ENST00000679569.1:n.723+7A>C
ENST00000679842.1:c.409+7A>C	ENSP00000506109.1:n.409+7A>C
ENST00000680454.1:n.853+7A>C
ENST00000681102.1:c.409+7A>C	ENSP00000505600.1:n.409+7A>C
ENST00000681177.1:c.409+7A>C	ENSP00000506327.1:n.409+7A>C
ENST00000366577.9:c.409+7A>C	ENSP00000355536.5:n.409+7A>C
ENST00000463959.1:n.429-1723A>C
ENST00000535889.5:c.409+7A>C	ENSP00000441845.1:n.409+7A>C
NM_000254.2:c.409+7A>C	NP_000245.2:n.409+7A>C
NM_001291939.1:c.409+7A>C	NP_001278868.1:n.409+7A>C
NM_001291940.1:c.-700+7A>C	NP_001278869.1:n.-700+7A>C
XM_005273141.3:c.406+7A>C	XP_005273198.1:n.406+7A>C
XM_006711769.2:c.409+7A>C	XP_006711832.1:n.409+7A>C
XM_011544193.1:c.409+7A>C	XP_011542495.1:n.409+7A>C
XM_011544194.1:c.577+7A>C	XP_011542496.1:n.577+7A>C
XM_005273141.5:c.406+7A>C	XP_005273198.1:n.406+7A>C
XM_011544194.3:c.577+7A>C	XP_011542496.1:n.577+7A>C
XM_017001329.2:c.577+7A>C	XP_016856818.1:n.577+7A>C
XM_017001330.2:c.577+7A>C	XP_016856819.1:n.577+7A>C
NM_001291940.2:c.-700+7A>C	NP_001278869.1:n.-700+7A>C
NM_000254.3:c.409+7A>C MANE Select	NP_000245.2:n.409+7A>C