Canonical Allele Identifier: CA423816846
Gene: MTR HGNC NCBI

Linked Data

dbSNP Id: rs1662473382
MyVariant Identifiers: chr1:g.236992559T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.236829259T>C , CM000663.2:g.236829259T>C GRCh38
NC_000001.10:g.236992559T>C , CM000663.1:g.236992559T>C GRCh37
NC_000001.9:g.235059182T>C NCBI36
NG_008959.1:g.38979T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000366577.10:c.1066T>C MANE Select ENSP00000355536.5:p.Leu356=
ENST00000535889.6:c.1066T>C ENSP00000441845.1:p.Leu356=
ENST00000650888.1:c.*108T>C ENSP00000498393.1:n.*108T>C
ENST00000651455.1:c.1066T>C ENSP00000498963.1:p.Leu356=
ENST00000674797.2:c.718T>C ENSP00000502299.2:p.Leu240=
ENST00000679569.1:n.1380T>C
ENST00000679842.1:c.1066T>C ENSP00000506109.1:p.Leu356=
ENST00000680454.1:n.1510T>C
ENST00000681102.1:c.1066T>C ENSP00000505600.1:p.Leu356=
ENST00000681177.1:c.1066T>C ENSP00000506327.1:p.Leu356=
ENST00000681937.1:n.1698T>C
ENST00000366577.9:c.1066T>C ENSP00000355536.5:p.Leu356=
ENST00000463959.1:n.1085T>C
ENST00000535889.5:c.1066T>C ENSP00000441845.1:p.Leu356=
NM_000254.2:c.1066T>C NP_000245.2:p.Leu356=
NM_001291939.1:c.1066T>C NP_001278868.1:p.Leu356=
NM_001291940.1:c.-43T>C NP_001278869.1:n.-43T>C
XM_005273141.3:c.1063T>C XP_005273198.1:p.Leu355=
XM_006711769.2:c.1066T>C XP_006711832.1:p.Leu356=
XM_006711770.1:c.130T>C XP_006711833.1:p.Leu44=
XM_011544193.1:c.1066T>C XP_011542495.1:p.Leu356=
XM_011544194.1:c.1234T>C XP_011542496.1:p.Leu412=
XM_005273141.5:c.1063T>C XP_005273198.1:p.Leu355=
XM_006711770.3:c.130T>C XP_006711833.1:p.Leu44=
XM_011544194.3:c.1234T>C XP_011542496.1:p.Leu412=
XM_017001329.2:c.1234T>C XP_016856818.1:p.Leu412=
XM_017001330.2:c.1234T>C XP_016856819.1:p.Leu412=
NM_001291940.2:c.-43T>C NP_001278869.1:n.-43T>C
NM_000254.3:c.1066T>C MANE Select NP_000245.2:p.Leu356=