Canonical Allele Identifier: CA423816758
Gene: MTR HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.236992498T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.236829198T>G , CM000663.2:g.236829198T>G GRCh38
NC_000001.10:g.236992498T>G , CM000663.1:g.236992498T>G GRCh37
NC_000001.9:g.235059121T>G NCBI36
NG_008959.1:g.38918T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000366577.10:c.1005T>G MANE Select ENSP00000355536.5:p.Ala335=
ENST00000535889.6:c.1005T>G ENSP00000441845.1:p.Ala335=
ENST00000650888.1:c.*47T>G ENSP00000498393.1:n.*47T>G
ENST00000651455.1:c.1005T>G ENSP00000498963.1:p.Ala335=
ENST00000674797.2:c.657T>G ENSP00000502299.2:p.Ala219=
ENST00000679569.1:n.1319T>G
ENST00000679842.1:c.1005T>G ENSP00000506109.1:p.Ala335=
ENST00000680454.1:n.1449T>G
ENST00000681102.1:c.1005T>G ENSP00000505600.1:p.Ala335=
ENST00000681177.1:c.1005T>G ENSP00000506327.1:p.Ala335=
ENST00000681937.1:n.1637T>G
ENST00000366577.9:c.1005T>G ENSP00000355536.5:p.Ala335=
ENST00000463959.1:n.1024T>G
ENST00000535889.5:c.1005T>G ENSP00000441845.1:p.Ala335=
NM_000254.2:c.1005T>G NP_000245.2:p.Ala335=
NM_001291939.1:c.1005T>G NP_001278868.1:p.Ala335=
NM_001291940.1:c.-104T>G NP_001278869.1:n.-104T>G
XM_005273141.3:c.1002T>G XP_005273198.1:p.Ala334=
XM_006711769.2:c.1005T>G XP_006711832.1:p.Ala335=
XM_006711770.1:c.69T>G XP_006711833.1:p.Ala23=
XM_011544193.1:c.1005T>G XP_011542495.1:p.Ala335=
XM_011544194.1:c.1173T>G XP_011542496.1:p.Ala391=
XM_005273141.5:c.1002T>G XP_005273198.1:p.Ala334=
XM_006711770.3:c.69T>G XP_006711833.1:p.Ala23=
XM_011544194.3:c.1173T>G XP_011542496.1:p.Ala391=
XM_017001329.2:c.1173T>G XP_016856818.1:p.Ala391=
XM_017001330.2:c.1173T>G XP_016856819.1:p.Ala391=
NM_001291940.2:c.-104T>G NP_001278869.1:n.-104T>G
NM_000254.3:c.1005T>G MANE Select NP_000245.2:p.Ala335=