Canonical Allele Identifier: CA004298
Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 185023
dbSNP Id: rs786201875
gnomAD v2: 3-37067170-A-G
gnomAD v4: 3-37025679-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.37025679A>G , CM000665.2:g.37025679A>G GRCh38
NC_000003.11:g.37067170A>G , CM000665.1:g.37067170A>G GRCh37
NC_000003.10:g.37042174A>G NCBI36
NG_007109.2:g.37330A>G , LRG_216:g.37330A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000413740.2:c.1081A>G ENSP00000416476.2:p.Lys361Glu
ENST00000429117.6:c.787A>G ENSP00000407019.2:p.Lys263Glu
ENST00000450420.6:c.1081A>G ENSP00000393006.2:p.Lys361Glu
ENST00000456676.7:c.1081A>G ENSP00000416687.3:p.Lys361Glu
ENST00000458009.6:c.927A>G ENSP00000411066.2:p.Leu309=
ENST00000492474.6:c.358A>G ENSP00000518393.1:p.Lys120Glu
ENST00000616768.6:c.1081A>G ENSP00000480669.3:p.Lys361Glu
ENST00000673673.2:c.1081A>G ENSP00000500979.2:p.Lys361Glu
ENST00000231790.8:c.1081A>G MANE Select ENSP00000231790.3:p.Lys361Glu
ENST00000413212.2:c.110A>G ENSP00000400844.2:p.Ter37=
ENST00000432299.6:c.*913A>G ENSP00000416783.1:n.*913A>G
ENST00000441265.6:c.358A>G ENSP00000398392.2:p.Lys120Glu
ENST00000442249.6:n.889A>G
ENST00000447829.6:c.*192A>G ENSP00000399329.2:n.*192A>G
ENST00000539477.6:c.358A>G ENSP00000443665.1:p.Lys120Glu
ENST00000616768.5:c.118A>G ENSP00000480669.2:p.Lys40Glu
ENST00000673673.1:c.1034A>G
ENST00000673713.1:n.1205A>G
ENST00000673715.1:c.1081A>G ENSP00000501301.1:p.Lys361Glu
ENST00000673889.1:n.463A>G
ENST00000673897.1:c.*873A>G ENSP00000501109.1:n.*873A>G
ENST00000673899.1:c.678-3105A>G ENSP00000501030.1:n.678-3105A>G
ENST00000673947.1:c.*1221A>G ENSP00000501304.1:n.*1221A>G
ENST00000673972.1:c.*959A>G ENSP00000501281.1:n.*959A>G
ENST00000673990.1:n.972A>G
ENST00000674019.1:c.358A>G ENSP00000501081.1:p.Lys120Glu
ENST00000674107.1:n.929A>G
ENST00000674111.1:c.1081A>G ENSP00000501162.1:p.Lys361Glu
ENST00000231790.6:c.1081A>G ENSP00000231790.2:p.Lys361Glu
ENST00000413212.1:c.156A>G
ENST00000435176.5:c.787A>G ENSP00000402564.1:p.Lys263Glu
ENST00000447829.5:c.368A>G
ENST00000455445.6:c.358A>G ENSP00000398272.2:p.Lys120Glu
ENST00000456676.6:c.1056A>G
ENST00000458009.5:c.268A>G
ENST00000458205.6:c.358A>G ENSP00000402667.2:p.Lys120Glu
ENST00000536378.5:c.358A>G ENSP00000444286.2:p.Lys120Glu
ENST00000539477.5:c.358A>G ENSP00000443665.1:p.Lys120Glu
NM_000249.3:c.1081A>G , LRG_216t1:c.1081A>G NP_000240.1:p.Lys361Glu
NM_001167617.1:c.787A>G NP_001161089.1:p.Lys263Glu
NM_001167618.1:c.358A>G NP_001161090.1:p.Lys120Glu
NM_001167619.1:c.358A>G NP_001161091.1:p.Lys120Glu
NM_001258271.1:c.1081A>G NP_001245200.1:p.Lys361Glu
NM_001258273.1:c.358A>G NP_001245202.1:p.Lys120Glu
NM_001258274.1:c.358A>G NP_001245203.1:p.Lys120Glu
XM_005265161.1:c.874A>G XP_005265218.1:p.Lys292Glu
XM_005265163.1:c.358A>G XP_005265220.1:p.Lys120Glu
XM_005265164.1:c.358A>G XP_005265221.1:p.Lys120Glu
XM_005265166.1:c.58A>G XP_005265223.1:p.Lys20Glu
XM_011533727.1:c.7A>G XP_011532029.1:p.Lys3Glu
NM_001167617.2:c.787A>G NP_001161089.1:p.Lys263Glu
NM_001167618.2:c.358A>G NP_001161090.1:p.Lys120Glu
NM_001167619.2:c.358A>G NP_001161091.1:p.Lys120Glu
NM_001258274.2:c.358A>G NP_001245203.1:p.Lys120Glu
NM_001354615.1:c.358A>G NP_001341544.1:p.Lys120Glu
NM_001354616.1:c.358A>G NP_001341545.1:p.Lys120Glu
NM_001354617.1:c.358A>G NP_001341546.1:p.Lys120Glu
NM_001354618.1:c.358A>G NP_001341547.1:p.Lys120Glu
NM_001354619.1:c.358A>G NP_001341548.1:p.Lys120Glu
NM_001354620.1:c.787A>G NP_001341549.1:p.Lys263Glu
NM_001354621.1:c.58A>G NP_001341550.1:p.Lys20Glu
NM_001354622.1:c.58A>G NP_001341551.1:p.Lys20Glu
NM_001354623.1:c.58A>G NP_001341552.1:p.Lys20Glu
NM_001354624.1:c.7A>G NP_001341553.1:p.Lys3Glu
NM_001354625.1:c.7A>G NP_001341554.1:p.Lys3Glu
NM_001354626.1:c.7A>G NP_001341555.1:p.Lys3Glu
NM_001354627.1:c.7A>G NP_001341556.1:p.Lys3Glu
NM_001354628.1:c.1081A>G NP_001341557.1:p.Lys361Glu
NM_001354629.1:c.982A>G NP_001341558.1:p.Lys328Glu
NM_001354630.1:c.1081A>G NP_001341559.1:p.Lys361Glu
XM_005265161.2:c.874A>G XP_005265218.1:p.Lys292Glu
XM_017006450.2:c.58A>G XP_016861939.1:p.Lys20Glu
NM_000249.4:c.1081A>G MANE Select NP_000240.1:p.Lys361Glu
NM_001167617.3:c.787A>G NP_001161089.1:p.Lys263Glu
NM_001167618.3:c.358A>G NP_001161090.1:p.Lys120Glu
NM_001167619.3:c.358A>G NP_001161091.1:p.Lys120Glu
NM_001258271.2:c.1081A>G NP_001245200.1:p.Lys361Glu
NM_001258273.2:c.358A>G NP_001245202.1:p.Lys120Glu
NM_001258274.3:c.358A>G NP_001245203.1:p.Lys120Glu
NM_001354615.2:c.358A>G NP_001341544.1:p.Lys120Glu
NM_001354616.2:c.358A>G NP_001341545.1:p.Lys120Glu
NM_001354617.2:c.358A>G NP_001341546.1:p.Lys120Glu
NM_001354618.2:c.358A>G NP_001341547.1:p.Lys120Glu
NM_001354619.2:c.358A>G NP_001341548.1:p.Lys120Glu
NM_001354620.2:c.787A>G NP_001341549.1:p.Lys263Glu
NM_001354621.2:c.58A>G NP_001341550.1:p.Lys20Glu
NM_001354622.2:c.58A>G NP_001341551.1:p.Lys20Glu
NM_001354623.2:c.58A>G NP_001341552.1:p.Lys20Glu
NM_001354624.2:c.7A>G NP_001341553.1:p.Lys3Glu
NM_001354625.2:c.7A>G NP_001341554.1:p.Lys3Glu
NM_001354626.2:c.7A>G NP_001341555.1:p.Lys3Glu
NM_001354627.2:c.7A>G NP_001341556.1:p.Lys3Glu
NM_001354628.2:c.1081A>G NP_001341557.1:p.Lys361Glu
NM_001354629.2:c.982A>G NP_001341558.1:p.Lys328Glu
NM_001354630.2:c.1081A>G NP_001341559.1:p.Lys361Glu