Canonical Allele Identifier: CA39744994

Gene: MTR

Linked Data

• ClinVar Variation Id: 3020425
• ClinVar RCV Id: RCV003877600
• dbSNP Id: rs1048374781
• gnomAD v4: 1-236852526-A-G
• MyVariant Identifiers: chr1:g.237015826A>G (hg19) ; chr1:g.236852526A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236852526A>G , CM000663.2:g.236852526A>G	GRCh38
NC_000001.10:g.237015826A>G , CM000663.1:g.237015826A>G	GRCh37
NC_000001.9:g.235082449A>G	NCBI36
NG_008959.1:g.62246A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366577.10:c.1701A>G MANE Select	ENSP00000355536.5:p.Thr567=
ENST00000535889.6:c.1701A>G	ENSP00000441845.1:p.Thr567=
ENST00000650888.1:c.*743A>G	ENSP00000498393.1:n.*743A>G
ENST00000651455.1:c.*445A>G	ENSP00000498963.1:n.*445A>G
ENST00000674797.2:c.1353A>G	ENSP00000502299.2:p.Thr451=
ENST00000679569.1:n.2015A>G
ENST00000679842.1:c.1701A>G	ENSP00000506109.1:p.Thr567=
ENST00000680454.1:n.2145A>G
ENST00000681102.1:c.1521A>G	ENSP00000505600.1:p.Thr507=
ENST00000681177.1:c.1516-7307A>G	ENSP00000506327.1:n.1516-7307A>G
ENST00000681937.1:n.2148-7307A>G
ENST00000366576.3:c.363A>G	ENSP00000355535.3:p.Thr121=
ENST00000366577.9:c.1701A>G	ENSP00000355536.5:p.Thr567=
ENST00000463959.1:n.1720A>G
ENST00000535889.5:c.1701A>G	ENSP00000441845.1:p.Thr567=
NM_000254.2:c.1701A>G	NP_000245.2:p.Thr567=
NM_001291939.1:c.1701A>G	NP_001278868.1:p.Thr567=
NM_001291940.1:c.480A>G	NP_001278869.1:p.Thr160=
XM_005273141.3:c.1698A>G	XP_005273198.1:p.Thr566=
XM_006711769.2:c.1701A>G	XP_006711832.1:p.Thr567=
XM_006711770.1:c.765A>G	XP_006711833.1:p.Thr255=
XM_011544193.1:c.1701A>G	XP_011542495.1:p.Thr567=
XM_011544194.1:c.1869A>G	XP_011542496.1:p.Thr623=
XM_005273141.5:c.1698A>G	XP_005273198.1:p.Thr566=
XM_006711770.3:c.765A>G	XP_006711833.1:p.Thr255=
XM_011544194.3:c.1869A>G	XP_011542496.1:p.Thr623=
XM_017001329.2:c.1869A>G	XP_016856818.1:p.Thr623=
XM_017001330.2:c.1869A>G	XP_016856819.1:p.Thr623=
NM_001291940.2:c.480A>G	NP_001278869.1:p.Thr160=
NM_000254.3:c.1701A>G MANE Select	NP_000245.2:p.Thr567=