Canonical Allele Identifier: CA1357866945
Gene: MLH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36996659G= , CM000665.2:g.36996659G= GRCh38
NC_000003.11:g.37038150G= , CM000665.1:g.37038150G= GRCh37
NC_000003.10:g.37013154G= NCBI36
NG_007109.2:g.8310G= , LRG_216:g.8310G=
NG_008418.1:g.1646C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.157G= ENSP00000416476.2:p.Glu53=
ENST00000429117.6:c.-133G= ENSP00000407019.2:n.-133G=
ENST00000450420.6:c.157G= ENSP00000393006.2:p.Glu53=
ENST00000456676.7:c.157G= ENSP00000416687.3:p.Glu53=
ENST00000458009.6:c.157G= ENSP00000411066.2:p.Glu53=
ENST00000492474.6:c.-567G= ENSP00000518393.1:n.-567G=
ENST00000616768.6:c.157G= ENSP00000480669.3:p.Glu53=
ENST00000673673.2:c.157G= ENSP00000500979.2:p.Glu53=
ENST00000231790.8:c.157G= MANE Select ENSP00000231790.3:p.Glu53=
ENST00000413212.2:c.-567G= ENSP00000400844.2:n.-567G=
ENST00000432299.6:c.*237G= ENSP00000416783.1:n.*237G=
ENST00000441265.6:c.-567G= ENSP00000398392.2:n.-567G=
ENST00000442249.6:n.172G=
ENST00000447829.6:c.-133G= ENSP00000399329.2:n.-133G=
ENST00000476172.6:n.1120-1311G=
ENST00000539477.6:c.-475G= ENSP00000443665.1:n.-475G=
ENST00000673673.1:c.110G=
ENST00000673686.1:n.147G=
ENST00000673713.1:n.188G=
ENST00000673715.1:c.157G= ENSP00000501301.1:p.Glu53=
ENST00000673897.1:c.116+2996G= ENSP00000501109.1:n.116+2996G=
ENST00000673899.1:c.157G= ENSP00000501030.1:p.Glu53=
ENST00000673947.1:c.*297G= ENSP00000501304.1:n.*297G=
ENST00000673972.1:c.*35G= ENSP00000501281.1:n.*35G=
ENST00000673990.1:n.142G=
ENST00000674019.1:c.-567G= ENSP00000501081.1:n.-567G=
ENST00000674107.1:n.99G=
ENST00000674111.1:c.157G= ENSP00000501162.1:p.Glu53=
ENST00000231790.6:c.157G= ENSP00000231790.2:p.Glu53=
ENST00000429117.5:c.-133G= ENSP00000407019.1:n.-133G=
ENST00000432299.5:c.*237G= ENSP00000416783.1:n.*237G=
ENST00000435176.5:c.-133G= ENSP00000402564.1:n.-133G=
ENST00000441265.5:c.-475G= ENSP00000398392.1:n.-475G=
ENST00000442249.5:c.116+2996G= ENSP00000387511.1:n.116+2996G=
ENST00000454028.5:c.*35G= ENSP00000392649.1:n.*35G=
ENST00000455445.6:c.-567G= ENSP00000398272.2:n.-567G=
ENST00000456676.6:c.132G=
ENST00000457004.5:c.*35G= ENSP00000407773.1:n.*35G=
ENST00000458205.6:c.-712G= ENSP00000402667.2:n.-712G=
ENST00000466900.5:n.84G=
ENST00000476172.5:n.279G=
ENST00000485889.1:n.161G=
ENST00000492474.5:n.180G=
ENST00000536378.5:c.-517+2996G= ENSP00000444286.2:n.-517+2996G=
ENST00000539477.5:c.-475G= ENSP00000443665.1:n.-475G=
NM_000249.3:c.157G= , LRG_216t1:c.157G= NP_000240.1:p.Glu53=
NM_001167617.1:c.-133G= NP_001161089.1:n.-133G=
NM_001167618.1:c.-567G= NP_001161090.1:n.-567G=
NM_001167619.1:c.-475G= NP_001161091.1:n.-475G=
NM_001258271.1:c.157G= NP_001245200.1:p.Glu53=
NM_001258273.1:c.-517+2996G= NP_001245202.1:n.-517+2996G=
NM_001258274.1:c.-712G= NP_001245203.1:n.-712G=
XM_005265161.1:c.157G= XP_005265218.1:p.Glu53=
XM_005265163.1:c.-567G= XP_005265220.1:n.-567G=
XM_005265164.1:c.-567G= XP_005265221.1:n.-567G=
XM_005265166.1:c.-773G= XP_005265223.1:n.-773G=
XM_011533727.1:c.-670G= XP_011532029.1:n.-670G=
NM_001167617.2:c.-133G= NP_001161089.1:n.-133G=
NM_001167618.2:c.-567G= NP_001161090.1:n.-567G=
NM_001167619.2:c.-475G= NP_001161091.1:n.-475G=
NM_001258274.2:c.-712G= NP_001245203.1:n.-712G=
NM_001354615.1:c.-470G= NP_001341544.1:n.-470G=
NM_001354616.1:c.-475G= NP_001341545.1:n.-475G=
NM_001354617.1:c.-567G= NP_001341546.1:n.-567G=
NM_001354618.1:c.-567G= NP_001341547.1:n.-567G=
NM_001354619.1:c.-567G= NP_001341548.1:n.-567G=
NM_001354620.1:c.-133G= NP_001341549.1:n.-133G=
NM_001354621.1:c.-660G= NP_001341550.1:n.-660G=
NM_001354622.1:c.-773G= NP_001341551.1:n.-773G=
NM_001354623.1:c.-723+2769G= NP_001341552.1:n.-723+2769G=
NM_001354624.1:c.-670G= NP_001341553.1:n.-670G=
NM_001354625.1:c.-573G= NP_001341554.1:n.-573G=
NM_001354626.1:c.-670G= NP_001341555.1:n.-670G=
NM_001354627.1:c.-670G= NP_001341556.1:n.-670G=
NM_001354628.1:c.157G= NP_001341557.1:p.Glu53=
NM_001354629.1:c.157G= NP_001341558.1:p.Glu53=
NM_001354630.1:c.157G= NP_001341559.1:p.Glu53=
XM_005265161.2:c.157G= XP_005265218.1:p.Glu53=
XM_017006450.2:c.-660G= XP_016861939.1:n.-660G=
NM_000249.4:c.157G= MANE Select NP_000240.1:p.Glu53=
NM_001167617.3:c.-133G= NP_001161089.1:n.-133G=
NM_001167618.3:c.-567G= NP_001161090.1:n.-567G=
NM_001167619.3:c.-475G= NP_001161091.1:n.-475G=
NM_001258271.2:c.157G= NP_001245200.1:p.Glu53=
NM_001258273.2:c.-517+2996G= NP_001245202.1:n.-517+2996G=
NM_001258274.3:c.-712G= NP_001245203.1:n.-712G=
NM_001354615.2:c.-470G= NP_001341544.1:n.-470G=
NM_001354616.2:c.-475G= NP_001341545.1:n.-475G=
NM_001354617.2:c.-567G= NP_001341546.1:n.-567G=
NM_001354618.2:c.-567G= NP_001341547.1:n.-567G=
NM_001354619.2:c.-567G= NP_001341548.1:n.-567G=
NM_001354620.2:c.-133G= NP_001341549.1:n.-133G=
NM_001354621.2:c.-660G= NP_001341550.1:n.-660G=
NM_001354622.2:c.-773G= NP_001341551.1:n.-773G=
NM_001354623.2:c.-723+2769G= NP_001341552.1:n.-723+2769G=
NM_001354624.2:c.-670G= NP_001341553.1:n.-670G=
NM_001354625.2:c.-573G= NP_001341554.1:n.-573G=
NM_001354626.2:c.-670G= NP_001341555.1:n.-670G=
NM_001354627.2:c.-670G= NP_001341556.1:n.-670G=
NM_001354628.2:c.157G= NP_001341557.1:p.Glu53=
NM_001354629.2:c.157G= NP_001341558.1:p.Glu53=
NM_001354630.2:c.157G= NP_001341559.1:p.Glu53=