Canonical Allele Identifier: CA1357864798
Gene: MLH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993561C= , CM000665.2:g.36993561C= GRCh38
NC_000003.11:g.37035052C= , CM000665.1:g.37035052C= GRCh37
NC_000003.10:g.37010056C= NCBI36
NG_007109.2:g.5212C= , LRG_216:g.5212C=
NG_008418.1:g.4744G=

Transcript Alleles

HGVS Amino-acid change
ENST00000413740.2:c.14C= ENSP00000416476.2:p.Ala5=
ENST00000450420.6:c.14C= ENSP00000393006.2:p.Ala5=
ENST00000456676.7:c.14C= ENSP00000416687.3:p.Ala5=
ENST00000458009.6:c.14C= ENSP00000411066.2:p.Ala5=
ENST00000616768.6:c.14C= ENSP00000480669.3:p.Ala5=
ENST00000673673.2:c.14C= ENSP00000500979.2:p.Ala5=
ENST00000231790.8:c.14C= MANE Select ENSP00000231790.3:p.Ala5=
ENST00000432299.6:c.14C= ENSP00000416783.1:p.Ala5=
ENST00000442249.6:n.29C=
ENST00000673713.1:n.45C=
ENST00000673715.1:c.14C= ENSP00000501301.1:p.Ala5=
ENST00000673897.1:c.14C= ENSP00000501109.1:p.Ala5=
ENST00000673899.1:c.14C= ENSP00000501030.1:p.Ala5=
ENST00000673947.1:c.14C= ENSP00000501304.1:p.Ala5=
ENST00000673972.1:c.14C= ENSP00000501281.1:p.Ala5=
ENST00000674111.1:c.14C= ENSP00000501162.1:p.Ala5=
ENST00000231790.6:c.14C= ENSP00000231790.2:p.Ala5=
ENST00000432299.5:c.14C= ENSP00000416783.1:p.Ala5=
ENST00000442249.5:c.14C= ENSP00000387511.1:p.Ala5=
ENST00000454028.5:c.14C= ENSP00000392649.1:p.Ala5=
ENST00000457004.5:c.14C= ENSP00000407773.1:p.Ala5=
ENST00000536378.5:c.-619C= ENSP00000444286.2:n.-619C=
NM_000249.3:c.14C= , LRG_216t1:c.14C= NP_000240.1:p.Ala5=
NM_001258271.1:c.14C= NP_001245200.1:p.Ala5=
NM_001258273.1:c.-619C= NP_001245202.1:n.-619C=
XM_005265161.1:c.14C= XP_005265218.1:p.Ala5=
XM_005265164.1:c.-705C= XP_005265221.1:n.-705C=
NM_001167617.2:c.-503C= NP_001161089.1:n.-503C=
NM_001167618.2:c.-932C= NP_001161090.1:n.-932C=
NM_001167619.2:c.-845C= NP_001161091.1:n.-845C=
NM_001258274.2:c.-1082C= NP_001245203.1:n.-1082C=
NM_001354615.1:c.-613C= NP_001341544.1:n.-613C=
NM_001354616.1:c.-613C= NP_001341545.1:n.-613C=
NM_001354617.1:c.-705C= NP_001341546.1:n.-705C=
NM_001354618.1:c.-937C= NP_001341547.1:n.-937C=
NM_001354619.1:c.-1061C= NP_001341548.1:n.-1061C=
NM_001354620.1:c.-271C= NP_001341549.1:n.-271C=
NM_001354621.1:c.-1030C= NP_001341550.1:n.-1030C=
NM_001354622.1:c.-1143C= NP_001341551.1:n.-1143C=
NM_001354623.1:c.-1052C= NP_001341552.1:n.-1052C=
NM_001354624.1:c.-813C= NP_001341553.1:n.-813C=
NM_001354625.1:c.-711C= NP_001341554.1:n.-711C=
NM_001354626.1:c.-808C= NP_001341555.1:n.-808C=
NM_001354627.1:c.-1040C= NP_001341556.1:n.-1040C=
NM_001354628.1:c.14C= NP_001341557.1:p.Ala5=
NM_001354629.1:c.14C= NP_001341558.1:p.Ala5=
NM_001354630.1:c.14C= NP_001341559.1:p.Ala5=
XM_005265161.2:c.14C= XP_005265218.1:p.Ala5=
XM_017006450.2:c.-798C= XP_016861939.1:n.-798C=
NM_000249.4:c.14C= MANE Select NP_000240.1:p.Ala5=
NM_001167617.3:c.-503C= NP_001161089.1:n.-503C=
NM_001167618.3:c.-932C= NP_001161090.1:n.-932C=
NM_001167619.3:c.-845C= NP_001161091.1:n.-845C=
NM_001258271.2:c.14C= NP_001245200.1:p.Ala5=
NM_001258273.2:c.-619C= NP_001245202.1:n.-619C=
NM_001258274.3:c.-1082C= NP_001245203.1:n.-1082C=
NM_001354615.2:c.-613C= NP_001341544.1:n.-613C=
NM_001354616.2:c.-613C= NP_001341545.1:n.-613C=
NM_001354617.2:c.-705C= NP_001341546.1:n.-705C=
NM_001354618.2:c.-937C= NP_001341547.1:n.-937C=
NM_001354619.2:c.-1061C= NP_001341548.1:n.-1061C=
NM_001354620.2:c.-271C= NP_001341549.1:n.-271C=
NM_001354621.2:c.-1030C= NP_001341550.1:n.-1030C=
NM_001354622.2:c.-1143C= NP_001341551.1:n.-1143C=
NM_001354623.2:c.-1052C= NP_001341552.1:n.-1052C=
NM_001354624.2:c.-813C= NP_001341553.1:n.-813C=
NM_001354625.2:c.-711C= NP_001341554.1:n.-711C=
NM_001354626.2:c.-808C= NP_001341555.1:n.-808C=
NM_001354627.2:c.-1040C= NP_001341556.1:n.-1040C=
NM_001354628.2:c.14C= NP_001341557.1:p.Ala5=
NM_001354629.2:c.14C= NP_001341558.1:p.Ala5=
NM_001354630.2:c.14C= NP_001341559.1:p.Ala5=