Canonical Allele Identifier: CA257198
Gene: MTR HGNC NCBI

Linked Data

ClinVar Variation Id: 14286
ClinVar RCV Id: RCV000015356
dbSNP Id: rs121913580

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.236852578C>T , CM000663.2:g.236852578C>T GRCh38
NC_000001.10:g.237015878C>T , CM000663.1:g.237015878C>T GRCh37
NC_000001.9:g.235082501C>T NCBI36
NG_008959.1:g.62298C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000366577.10:c.1753C>T MANE Select ENSP00000355536.5:p.Arg585Ter
ENST00000535889.6:c.1753C>T ENSP00000441845.1:p.Arg585Ter
ENST00000650888.1:c.*795C>T ENSP00000498393.1:p.=
ENST00000651455.1:c.*497C>T ENSP00000498963.1:p.=
ENST00000674797.2:c.1405C>T ENSP00000502299.2:p.Arg469Ter
ENST00000679569.1:n.2067C>T
ENST00000679842.1:n.1753C>T ENSP00000506109.1:p.Arg585Ter
ENST00000680454.1:n.2197C>T
ENST00000681102.1:n.1573C>T ENSP00000505600.1:p.Arg525Ter
ENST00000681177.1:n.1516-7255C>T ENSP00000506327.1:p.=
ENST00000681937.1:n.2148-7255C>T
ENST00000366576.3:n.415C>T ENSP00000355535.3:p.Arg139Ter
ENST00000366577.9:c.1753C>T ENSP00000355536.5:p.Arg585Ter
ENST00000463959.1:n.1772C>T
ENST00000535889.5:c.1753C>T ENSP00000441845.1:p.Arg585Ter
NM_000254.2:c.1753C>T NP_000245.2:p.Arg585Ter
NM_001291939.1:c.1753C>T NP_001278868.1:p.Arg585Ter
NM_001291940.1:c.532C>T NP_001278869.1:p.Arg178Ter
XM_005273141.3:c.1750C>T XP_005273198.1:p.Arg584Ter
XM_006711769.2:c.1753C>T XP_006711832.1:p.Arg585Ter
XM_006711770.1:c.817C>T XP_006711833.1:p.Arg273Ter
XM_011544193.1:c.1753C>T XP_011542495.1:p.Arg585Ter
XM_011544194.1:c.1921C>T XP_011542496.1:p.Arg641Ter
XM_005273141.5:c.1750C>T XP_005273198.1:p.Arg584Ter
XM_006711770.3:c.817C>T XP_006711833.1:p.Arg273Ter
XM_011544194.3:c.1921C>T XP_011542496.1:p.Arg641Ter
XM_017001329.2:c.1921C>T XP_016856818.1:p.Arg641Ter
XM_017001330.2:c.1921C>T XP_016856819.1:p.Arg641Ter
NM_001291940.2:c.532C>T NP_001278869.1:p.Arg178Ter
NM_000254.3:c.1753C>T MANE Select NP_000245.2:p.Arg585Ter