Canonical Allele Identifier: CA1357865020
Gene: MLH1 HGNC NCBI

Linked Data

dbSNP Id: rs2080930663
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993809G>A , CM000665.2:g.36993809G>A GRCh38
NC_000003.11:g.37035300G>A , CM000665.1:g.37035300G>A GRCh37
NC_000003.10:g.37010304G>A NCBI36
NG_007109.2:g.5460G>A , LRG_216:g.5460G>A
NG_008418.1:g.4496C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.116+146G>A ENSP00000416476.2:n.116+146G>A
ENST00000450420.6:c.116+146G>A ENSP00000393006.2:n.116+146G>A
ENST00000456676.7:c.116+146G>A ENSP00000416687.3:n.116+146G>A
ENST00000458009.6:c.116+146G>A ENSP00000411066.2:n.116+146G>A
ENST00000492474.6:c.-763G>A ENSP00000518393.1:n.-763G>A
ENST00000616768.6:c.116+146G>A ENSP00000480669.3:n.116+146G>A
ENST00000673673.2:c.116+146G>A ENSP00000500979.2:n.116+146G>A
ENST00000231790.8:c.116+146G>A MANE Select ENSP00000231790.3:n.116+146G>A
ENST00000413212.2:c.-689G>A ENSP00000400844.2:n.-689G>A
ENST00000432299.6:c.*115G>A ENSP00000416783.1:n.*115G>A
ENST00000442249.6:n.131+146G>A
ENST00000447829.6:c.-255G>A ENSP00000399329.2:n.-255G>A
ENST00000476172.6:n.25G>A
ENST00000539477.6:c.-597G>A ENSP00000443665.1:n.-597G>A
ENST00000673673.1:c.69+146G>A
ENST00000673686.1:n.25G>A
ENST00000673713.1:n.147+146G>A
ENST00000673715.1:c.116+146G>A ENSP00000501301.1:n.116+146G>A
ENST00000673897.1:c.116+146G>A ENSP00000501109.1:n.116+146G>A
ENST00000673899.1:c.116+146G>A ENSP00000501030.1:n.116+146G>A
ENST00000673947.1:c.116+146G>A ENSP00000501304.1:n.116+146G>A
ENST00000673972.1:c.116+146G>A ENSP00000501281.1:n.116+146G>A
ENST00000673990.1:n.25G>A
ENST00000674019.1:c.-813G>A ENSP00000501081.1:n.-813G>A
ENST00000674111.1:c.116+146G>A ENSP00000501162.1:n.116+146G>A
ENST00000231790.6:c.116+146G>A ENSP00000231790.2:n.116+146G>A
ENST00000432299.5:c.*115G>A ENSP00000416783.1:n.*115G>A
ENST00000435176.5:c.-255G>A ENSP00000402564.1:n.-255G>A
ENST00000441265.5:c.-597G>A ENSP00000398392.1:n.-597G>A
ENST00000442249.5:c.116+146G>A ENSP00000387511.1:n.116+146G>A
ENST00000454028.5:c.116+146G>A ENSP00000392649.1:n.116+146G>A
ENST00000455445.6:c.-684G>A ENSP00000398272.2:n.-684G>A
ENST00000456676.6:c.91+146G>A
ENST00000457004.5:c.116+146G>A ENSP00000407773.1:n.116+146G>A
ENST00000458205.6:c.-834G>A ENSP00000402667.2:n.-834G>A
ENST00000476172.5:n.33G>A
ENST00000536378.5:c.-517+146G>A ENSP00000444286.2:n.-517+146G>A
ENST00000539477.5:c.-597G>A ENSP00000443665.1:n.-597G>A
NM_000249.3:c.116+146G>A , LRG_216t1:c.116+146G>A NP_000240.1:n.116+146G>A
NM_001167617.1:c.-255G>A NP_001161089.1:n.-255G>A
NM_001167618.1:c.-684G>A NP_001161090.1:n.-684G>A
NM_001167619.1:c.-597G>A NP_001161091.1:n.-597G>A
NM_001258271.1:c.116+146G>A NP_001245200.1:n.116+146G>A
NM_001258273.1:c.-517+146G>A NP_001245202.1:n.-517+146G>A
NM_001258274.1:c.-834G>A NP_001245203.1:n.-834G>A
XM_005265161.1:c.116+146G>A XP_005265218.1:n.116+146G>A
XM_005265163.1:c.-689G>A XP_005265220.1:n.-689G>A
XM_005265164.1:c.-603+146G>A XP_005265221.1:n.-603+146G>A
XM_005265166.1:c.-895G>A XP_005265223.1:n.-895G>A
XM_011533727.1:c.-792G>A XP_011532029.1:n.-792G>A
NM_001167617.2:c.-255G>A NP_001161089.1:n.-255G>A
NM_001167618.2:c.-684G>A NP_001161090.1:n.-684G>A
NM_001167619.2:c.-597G>A NP_001161091.1:n.-597G>A
NM_001258274.2:c.-834G>A NP_001245203.1:n.-834G>A
NM_001354615.1:c.-511+146G>A NP_001341544.1:n.-511+146G>A
NM_001354616.1:c.-511+146G>A NP_001341545.1:n.-511+146G>A
NM_001354617.1:c.-603+146G>A NP_001341546.1:n.-603+146G>A
NM_001354618.1:c.-689G>A NP_001341547.1:n.-689G>A
NM_001354619.1:c.-813G>A NP_001341548.1:n.-813G>A
NM_001354620.1:c.-169+146G>A NP_001341549.1:n.-169+146G>A
NM_001354621.1:c.-782G>A NP_001341550.1:n.-782G>A
NM_001354622.1:c.-895G>A NP_001341551.1:n.-895G>A
NM_001354623.1:c.-804G>A NP_001341552.1:n.-804G>A
NM_001354624.1:c.-711+146G>A NP_001341553.1:n.-711+146G>A
NM_001354625.1:c.-609+146G>A NP_001341554.1:n.-609+146G>A
NM_001354626.1:c.-706+146G>A NP_001341555.1:n.-706+146G>A
NM_001354627.1:c.-792G>A NP_001341556.1:n.-792G>A
NM_001354628.1:c.116+146G>A NP_001341557.1:n.116+146G>A
NM_001354629.1:c.116+146G>A NP_001341558.1:n.116+146G>A
NM_001354630.1:c.116+146G>A NP_001341559.1:n.116+146G>A
XM_005265161.2:c.116+146G>A XP_005265218.1:n.116+146G>A
XM_017006450.2:c.-696+146G>A XP_016861939.1:n.-696+146G>A
NM_000249.4:c.116+146G>A MANE Select NP_000240.1:n.116+146G>A
NM_001167617.3:c.-255G>A NP_001161089.1:n.-255G>A
NM_001167618.3:c.-684G>A NP_001161090.1:n.-684G>A
NM_001167619.3:c.-597G>A NP_001161091.1:n.-597G>A
NM_001258271.2:c.116+146G>A NP_001245200.1:n.116+146G>A
NM_001258273.2:c.-517+146G>A NP_001245202.1:n.-517+146G>A
NM_001258274.3:c.-834G>A NP_001245203.1:n.-834G>A
NM_001354615.2:c.-511+146G>A NP_001341544.1:n.-511+146G>A
NM_001354616.2:c.-511+146G>A NP_001341545.1:n.-511+146G>A
NM_001354617.2:c.-603+146G>A NP_001341546.1:n.-603+146G>A
NM_001354618.2:c.-689G>A NP_001341547.1:n.-689G>A
NM_001354619.2:c.-813G>A NP_001341548.1:n.-813G>A
NM_001354620.2:c.-169+146G>A NP_001341549.1:n.-169+146G>A
NM_001354621.2:c.-782G>A NP_001341550.1:n.-782G>A
NM_001354622.2:c.-895G>A NP_001341551.1:n.-895G>A
NM_001354623.2:c.-804G>A NP_001341552.1:n.-804G>A
NM_001354624.2:c.-711+146G>A NP_001341553.1:n.-711+146G>A
NM_001354625.2:c.-609+146G>A NP_001341554.1:n.-609+146G>A
NM_001354626.2:c.-706+146G>A NP_001341555.1:n.-706+146G>A
NM_001354627.2:c.-792G>A NP_001341556.1:n.-792G>A
NM_001354628.2:c.116+146G>A NP_001341557.1:n.116+146G>A
NM_001354629.2:c.116+146G>A NP_001341558.1:n.116+146G>A
NM_001354630.2:c.116+146G>A NP_001341559.1:n.116+146G>A
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