Canonical Allele Identifier: CA1357866867
Gene: MLH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36996640T= , CM000665.2:g.36996640T= GRCh38
NC_000003.11:g.37038131T= , CM000665.1:g.37038131T= GRCh37
NC_000003.10:g.37013135T= NCBI36
NG_007109.2:g.8291T= , LRG_216:g.8291T=
NG_008418.1:g.1665A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.138T= ENSP00000416476.2:p.Ser46=
ENST00000429117.6:c.-152T= ENSP00000407019.2:n.-152T=
ENST00000450420.6:c.138T= ENSP00000393006.2:p.Ser46=
ENST00000456676.7:c.138T= ENSP00000416687.3:p.Ser46=
ENST00000458009.6:c.138T= ENSP00000411066.2:p.Ser46=
ENST00000492474.6:c.-586T= ENSP00000518393.1:n.-586T=
ENST00000616768.6:c.138T= ENSP00000480669.3:p.Ser46=
ENST00000673673.2:c.138T= ENSP00000500979.2:p.Ser46=
ENST00000231790.8:c.138T= MANE Select ENSP00000231790.3:p.Ser46=
ENST00000413212.2:c.-586T= ENSP00000400844.2:n.-586T=
ENST00000432299.6:c.*218T= ENSP00000416783.1:n.*218T=
ENST00000441265.6:c.-586T= ENSP00000398392.2:n.-586T=
ENST00000442249.6:n.153T=
ENST00000447829.6:c.-152T= ENSP00000399329.2:n.-152T=
ENST00000476172.6:n.1120-1330T=
ENST00000539477.6:c.-494T= ENSP00000443665.1:n.-494T=
ENST00000673673.1:c.91T=
ENST00000673686.1:n.128T=
ENST00000673713.1:n.169T=
ENST00000673715.1:c.138T= ENSP00000501301.1:p.Ser46=
ENST00000673897.1:c.116+2977T= ENSP00000501109.1:n.116+2977T=
ENST00000673899.1:c.138T= ENSP00000501030.1:p.Ser46=
ENST00000673947.1:c.*278T= ENSP00000501304.1:n.*278T=
ENST00000673972.1:c.*16T= ENSP00000501281.1:n.*16T=
ENST00000673990.1:n.123T=
ENST00000674019.1:c.-586T= ENSP00000501081.1:n.-586T=
ENST00000674107.1:n.80T=
ENST00000674111.1:c.138T= ENSP00000501162.1:p.Ser46=
ENST00000231790.6:c.138T= ENSP00000231790.2:p.Ser46=
ENST00000429117.5:c.-152T= ENSP00000407019.1:n.-152T=
ENST00000432299.5:c.*218T= ENSP00000416783.1:n.*218T=
ENST00000435176.5:c.-152T= ENSP00000402564.1:n.-152T=
ENST00000441265.5:c.-494T= ENSP00000398392.1:n.-494T=
ENST00000442249.5:c.116+2977T= ENSP00000387511.1:n.116+2977T=
ENST00000454028.5:c.*16T= ENSP00000392649.1:n.*16T=
ENST00000455445.6:c.-586T= ENSP00000398272.2:n.-586T=
ENST00000456676.6:c.113T=
ENST00000457004.5:c.*16T= ENSP00000407773.1:n.*16T=
ENST00000458205.6:c.-731T= ENSP00000402667.2:n.-731T=
ENST00000466900.5:n.65T=
ENST00000476172.5:n.260T=
ENST00000485889.1:n.142T=
ENST00000492474.5:n.161T=
ENST00000536378.5:c.-517+2977T= ENSP00000444286.2:n.-517+2977T=
ENST00000539477.5:c.-494T= ENSP00000443665.1:n.-494T=
NM_000249.3:c.138T= , LRG_216t1:c.138T= NP_000240.1:p.Ser46=
NM_001167617.1:c.-152T= NP_001161089.1:n.-152T=
NM_001167618.1:c.-586T= NP_001161090.1:n.-586T=
NM_001167619.1:c.-494T= NP_001161091.1:n.-494T=
NM_001258271.1:c.138T= NP_001245200.1:p.Ser46=
NM_001258273.1:c.-517+2977T= NP_001245202.1:n.-517+2977T=
NM_001258274.1:c.-731T= NP_001245203.1:n.-731T=
XM_005265161.1:c.138T= XP_005265218.1:p.Ser46=
XM_005265163.1:c.-586T= XP_005265220.1:n.-586T=
XM_005265164.1:c.-586T= XP_005265221.1:n.-586T=
XM_005265166.1:c.-792T= XP_005265223.1:n.-792T=
XM_011533727.1:c.-689T= XP_011532029.1:n.-689T=
NM_001167617.2:c.-152T= NP_001161089.1:n.-152T=
NM_001167618.2:c.-586T= NP_001161090.1:n.-586T=
NM_001167619.2:c.-494T= NP_001161091.1:n.-494T=
NM_001258274.2:c.-731T= NP_001245203.1:n.-731T=
NM_001354615.1:c.-489T= NP_001341544.1:n.-489T=
NM_001354616.1:c.-494T= NP_001341545.1:n.-494T=
NM_001354617.1:c.-586T= NP_001341546.1:n.-586T=
NM_001354618.1:c.-586T= NP_001341547.1:n.-586T=
NM_001354619.1:c.-586T= NP_001341548.1:n.-586T=
NM_001354620.1:c.-152T= NP_001341549.1:n.-152T=
NM_001354621.1:c.-679T= NP_001341550.1:n.-679T=
NM_001354622.1:c.-792T= NP_001341551.1:n.-792T=
NM_001354623.1:c.-723+2750T= NP_001341552.1:n.-723+2750T=
NM_001354624.1:c.-689T= NP_001341553.1:n.-689T=
NM_001354625.1:c.-592T= NP_001341554.1:n.-592T=
NM_001354626.1:c.-689T= NP_001341555.1:n.-689T=
NM_001354627.1:c.-689T= NP_001341556.1:n.-689T=
NM_001354628.1:c.138T= NP_001341557.1:p.Ser46=
NM_001354629.1:c.138T= NP_001341558.1:p.Ser46=
NM_001354630.1:c.138T= NP_001341559.1:p.Ser46=
XM_005265161.2:c.138T= XP_005265218.1:p.Ser46=
XM_017006450.2:c.-679T= XP_016861939.1:n.-679T=
NM_000249.4:c.138T= MANE Select NP_000240.1:p.Ser46=
NM_001167617.3:c.-152T= NP_001161089.1:n.-152T=
NM_001167618.3:c.-586T= NP_001161090.1:n.-586T=
NM_001167619.3:c.-494T= NP_001161091.1:n.-494T=
NM_001258271.2:c.138T= NP_001245200.1:p.Ser46=
NM_001258273.2:c.-517+2977T= NP_001245202.1:n.-517+2977T=
NM_001258274.3:c.-731T= NP_001245203.1:n.-731T=
NM_001354615.2:c.-489T= NP_001341544.1:n.-489T=
NM_001354616.2:c.-494T= NP_001341545.1:n.-494T=
NM_001354617.2:c.-586T= NP_001341546.1:n.-586T=
NM_001354618.2:c.-586T= NP_001341547.1:n.-586T=
NM_001354619.2:c.-586T= NP_001341548.1:n.-586T=
NM_001354620.2:c.-152T= NP_001341549.1:n.-152T=
NM_001354621.2:c.-679T= NP_001341550.1:n.-679T=
NM_001354622.2:c.-792T= NP_001341551.1:n.-792T=
NM_001354623.2:c.-723+2750T= NP_001341552.1:n.-723+2750T=
NM_001354624.2:c.-689T= NP_001341553.1:n.-689T=
NM_001354625.2:c.-592T= NP_001341554.1:n.-592T=
NM_001354626.2:c.-689T= NP_001341555.1:n.-689T=
NM_001354627.2:c.-689T= NP_001341556.1:n.-689T=
NM_001354628.2:c.138T= NP_001341557.1:p.Ser46=
NM_001354629.2:c.138T= NP_001341558.1:p.Ser46=
NM_001354630.2:c.138T= NP_001341559.1:p.Ser46=