Canonical Allele Identifier: CA423816804
Gene: MTR HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.236992534T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.236829234T>A , CM000663.2:g.236829234T>A GRCh38
NC_000001.10:g.236992534T>A , CM000663.1:g.236992534T>A GRCh37
NC_000001.9:g.235059157T>A NCBI36
NG_008959.1:g.38954T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366577.10:c.1041T>A MANE Select ENSP00000355536.5:p.Pro347=
ENST00000535889.6:c.1041T>A ENSP00000441845.1:p.Pro347=
ENST00000650888.1:c.*83T>A ENSP00000498393.1:n.*83T>A
ENST00000651455.1:c.1041T>A ENSP00000498963.1:p.Pro347=
ENST00000674797.2:c.693T>A ENSP00000502299.2:p.Pro231=
ENST00000679569.1:n.1355T>A
ENST00000679842.1:c.1041T>A ENSP00000506109.1:p.Pro347=
ENST00000680454.1:n.1485T>A
ENST00000681102.1:c.1041T>A ENSP00000505600.1:p.Pro347=
ENST00000681177.1:c.1041T>A ENSP00000506327.1:p.Pro347=
ENST00000681937.1:n.1673T>A
ENST00000366577.9:c.1041T>A ENSP00000355536.5:p.Pro347=
ENST00000463959.1:n.1060T>A
ENST00000535889.5:c.1041T>A ENSP00000441845.1:p.Pro347=
NM_000254.2:c.1041T>A NP_000245.2:p.Pro347=
NM_001291939.1:c.1041T>A NP_001278868.1:p.Pro347=
NM_001291940.1:c.-68T>A NP_001278869.1:n.-68T>A
XM_005273141.3:c.1038T>A XP_005273198.1:p.Pro346=
XM_006711769.2:c.1041T>A XP_006711832.1:p.Pro347=
XM_006711770.1:c.105T>A XP_006711833.1:p.Pro35=
XM_011544193.1:c.1041T>A XP_011542495.1:p.Pro347=
XM_011544194.1:c.1209T>A XP_011542496.1:p.Pro403=
XM_005273141.5:c.1038T>A XP_005273198.1:p.Pro346=
XM_006711770.3:c.105T>A XP_006711833.1:p.Pro35=
XM_011544194.3:c.1209T>A XP_011542496.1:p.Pro403=
XM_017001329.2:c.1209T>A XP_016856818.1:p.Pro403=
XM_017001330.2:c.1209T>A XP_016856819.1:p.Pro403=
NM_001291940.2:c.-68T>A NP_001278869.1:n.-68T>A
NM_000254.3:c.1041T>A MANE Select NP_000245.2:p.Pro347=