Canonical Allele Identifier: CA1473561

Gene: MTR

Linked Data

• ClinVar Variation Id: 296544
• ClinVar RCV Id: RCV000377709
• dbSNP Id: rs750631109
• ExAC: 1:236958896 G / C
• gnomAD v2: 1-236958896-G-C
• gnomAD v3: 1-236795596-G-C
• gnomAD v4: 1-236795596-G-C
• MyVariant Identifiers: chr1:g.236958896G>C (hg19) ; chr1:g.236795596G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236795596G>C , CM000663.2:g.236795596G>C	GRCh38
NC_000001.10:g.236958896G>C , CM000663.1:g.236958896G>C	GRCh37
NC_000001.9:g.235025519G>C	NCBI36
NG_008959.1:g.5316G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366577.10:c.-108G>C MANE Select	ENSP00000355536.5:n.-108G>C
ENST00000650888.1:c.-108G>C	ENSP00000498393.1:n.-108G>C
ENST00000652435.1:c.-241G>C	ENSP00000505932.1:n.-241G>C
ENST00000674797.2:c.-241G>C	ENSP00000502299.2:n.-241G>C
ENST00000679569.1:n.210G>C
ENST00000680454.1:n.337G>C
ENST00000366577.9:c.-108G>C	ENSP00000355536.5:n.-108G>C
ENST00000535889.5:c.-108G>C	ENSP00000441845.1:n.-108G>C
NM_000254.2:c.-108G>C	NP_000245.2:n.-108G>C
NM_001291939.1:c.-108G>C	NP_001278868.1:n.-108G>C
NM_001291940.1:c.-1216G>C	NP_001278869.1:n.-1216G>C
XM_005273141.3:c.-108G>C	XP_005273198.1:n.-108G>C
XM_006711769.2:c.-108G>C	XP_006711832.1:n.-108G>C
XM_011544193.1:c.-108G>C	XP_011542495.1:n.-108G>C
XM_011544194.1:c.276G>C	XP_011542496.1:p.Leu92Phe
XM_005273141.5:c.-108G>C	XP_005273198.1:n.-108G>C
XM_011544194.3:c.276G>C	XP_011542496.1:p.Leu92Phe
XM_017001329.2:c.276G>C	XP_016856818.1:p.Leu92Phe
XM_017001330.2:c.276G>C	XP_016856819.1:p.Leu92Phe
NM_001291940.2:c.-1216G>C	NP_001278869.1:n.-1216G>C
NM_000254.3:c.-108G>C MANE Select	NP_000245.2:n.-108G>C