Canonical Allele Identifier: CA1357864816
Gene: MLH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993576G= , CM000665.2:g.36993576G= GRCh38
NC_000003.11:g.37035067G= , CM000665.1:g.37035067G= GRCh37
NC_000003.10:g.37010071G= NCBI36
NG_007109.2:g.5227G= , LRG_216:g.5227G=
NG_008418.1:g.4729C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.29G= ENSP00000416476.2:p.Arg10=
ENST00000450420.6:c.29G= ENSP00000393006.2:p.Arg10=
ENST00000456676.7:c.29G= ENSP00000416687.3:p.Arg10=
ENST00000458009.6:c.29G= ENSP00000411066.2:p.Arg10=
ENST00000616768.6:c.29G= ENSP00000480669.3:p.Arg10=
ENST00000673673.2:c.29G= ENSP00000500979.2:p.Arg10=
ENST00000231790.8:c.29G= MANE Select ENSP00000231790.3:p.Arg10=
ENST00000432299.6:c.29G= ENSP00000416783.1:p.Arg10=
ENST00000442249.6:n.44G=
ENST00000673713.1:n.60G=
ENST00000673715.1:c.29G= ENSP00000501301.1:p.Arg10=
ENST00000673897.1:c.29G= ENSP00000501109.1:p.Arg10=
ENST00000673899.1:c.29G= ENSP00000501030.1:p.Arg10=
ENST00000673947.1:c.29G= ENSP00000501304.1:p.Arg10=
ENST00000673972.1:c.29G= ENSP00000501281.1:p.Arg10=
ENST00000674111.1:c.29G= ENSP00000501162.1:p.Arg10=
ENST00000231790.6:c.29G= ENSP00000231790.2:p.Arg10=
ENST00000432299.5:c.29G= ENSP00000416783.1:p.Arg10=
ENST00000442249.5:c.29G= ENSP00000387511.1:p.Arg10=
ENST00000454028.5:c.29G= ENSP00000392649.1:p.Arg10=
ENST00000456676.6:c.4G=
ENST00000457004.5:c.29G= ENSP00000407773.1:p.Arg10=
ENST00000536378.5:c.-604G= ENSP00000444286.2:n.-604G=
NM_000249.3:c.29G= , LRG_216t1:c.29G= NP_000240.1:p.Arg10=
NM_001258271.1:c.29G= NP_001245200.1:p.Arg10=
NM_001258273.1:c.-604G= NP_001245202.1:n.-604G=
XM_005265161.1:c.29G= XP_005265218.1:p.Arg10=
XM_005265164.1:c.-690G= XP_005265221.1:n.-690G=
NM_001167617.2:c.-488G= NP_001161089.1:n.-488G=
NM_001167618.2:c.-917G= NP_001161090.1:n.-917G=
NM_001167619.2:c.-830G= NP_001161091.1:n.-830G=
NM_001258274.2:c.-1067G= NP_001245203.1:n.-1067G=
NM_001354615.1:c.-598G= NP_001341544.1:n.-598G=
NM_001354616.1:c.-598G= NP_001341545.1:n.-598G=
NM_001354617.1:c.-690G= NP_001341546.1:n.-690G=
NM_001354618.1:c.-922G= NP_001341547.1:n.-922G=
NM_001354619.1:c.-1046G= NP_001341548.1:n.-1046G=
NM_001354620.1:c.-256G= NP_001341549.1:n.-256G=
NM_001354621.1:c.-1015G= NP_001341550.1:n.-1015G=
NM_001354622.1:c.-1128G= NP_001341551.1:n.-1128G=
NM_001354623.1:c.-1037G= NP_001341552.1:n.-1037G=
NM_001354624.1:c.-798G= NP_001341553.1:n.-798G=
NM_001354625.1:c.-696G= NP_001341554.1:n.-696G=
NM_001354626.1:c.-793G= NP_001341555.1:n.-793G=
NM_001354627.1:c.-1025G= NP_001341556.1:n.-1025G=
NM_001354628.1:c.29G= NP_001341557.1:p.Arg10=
NM_001354629.1:c.29G= NP_001341558.1:p.Arg10=
NM_001354630.1:c.29G= NP_001341559.1:p.Arg10=
XM_005265161.2:c.29G= XP_005265218.1:p.Arg10=
XM_017006450.2:c.-783G= XP_016861939.1:n.-783G=
NM_000249.4:c.29G= MANE Select NP_000240.1:p.Arg10=
NM_001167617.3:c.-488G= NP_001161089.1:n.-488G=
NM_001167618.3:c.-917G= NP_001161090.1:n.-917G=
NM_001167619.3:c.-830G= NP_001161091.1:n.-830G=
NM_001258271.2:c.29G= NP_001245200.1:p.Arg10=
NM_001258273.2:c.-604G= NP_001245202.1:n.-604G=
NM_001258274.3:c.-1067G= NP_001245203.1:n.-1067G=
NM_001354615.2:c.-598G= NP_001341544.1:n.-598G=
NM_001354616.2:c.-598G= NP_001341545.1:n.-598G=
NM_001354617.2:c.-690G= NP_001341546.1:n.-690G=
NM_001354618.2:c.-922G= NP_001341547.1:n.-922G=
NM_001354619.2:c.-1046G= NP_001341548.1:n.-1046G=
NM_001354620.2:c.-256G= NP_001341549.1:n.-256G=
NM_001354621.2:c.-1015G= NP_001341550.1:n.-1015G=
NM_001354622.2:c.-1128G= NP_001341551.1:n.-1128G=
NM_001354623.2:c.-1037G= NP_001341552.1:n.-1037G=
NM_001354624.2:c.-798G= NP_001341553.1:n.-798G=
NM_001354625.2:c.-696G= NP_001341554.1:n.-696G=
NM_001354626.2:c.-793G= NP_001341555.1:n.-793G=
NM_001354627.2:c.-1025G= NP_001341556.1:n.-1025G=
NM_001354628.2:c.29G= NP_001341557.1:p.Arg10=
NM_001354629.2:c.29G= NP_001341558.1:p.Arg10=
NM_001354630.2:c.29G= NP_001341559.1:p.Arg10=