Canonical Allele Identifier: CA036168
Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 455439
dbSNP Id: rs776643257
gnomAD v2: 3-37035084-G-C
gnomAD v4: 3-36993593-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993593G>C , CM000665.2:g.36993593G>C GRCh38
NC_000003.11:g.37035084G>C , CM000665.1:g.37035084G>C GRCh37
NC_000003.10:g.37010088G>C NCBI36
NG_007109.2:g.5244G>C , LRG_216:g.5244G>C
NG_008418.1:g.4712C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.46G>C ENSP00000416476.2:p.Val16Leu
ENST00000450420.6:c.46G>C ENSP00000393006.2:p.Val16Leu
ENST00000456676.7:c.46G>C ENSP00000416687.3:p.Val16Leu
ENST00000458009.6:c.46G>C ENSP00000411066.2:p.Val16Leu
ENST00000616768.6:c.46G>C ENSP00000480669.3:p.Val16Leu
ENST00000673673.2:c.46G>C ENSP00000500979.2:p.Val16Leu
ENST00000231790.8:c.46G>C MANE Select ENSP00000231790.3:p.Val16Leu
ENST00000432299.6:c.46G>C ENSP00000416783.1:p.Val16Leu
ENST00000442249.6:n.61G>C
ENST00000673713.1:n.77G>C
ENST00000673715.1:c.46G>C ENSP00000501301.1:p.Val16Leu
ENST00000673897.1:c.46G>C ENSP00000501109.1:p.Val16Leu
ENST00000673899.1:c.46G>C ENSP00000501030.1:p.Val16Leu
ENST00000673947.1:c.46G>C ENSP00000501304.1:p.Val16Leu
ENST00000673972.1:c.46G>C ENSP00000501281.1:p.Val16Leu
ENST00000674111.1:c.46G>C ENSP00000501162.1:p.Val16Leu
ENST00000231790.6:c.46G>C ENSP00000231790.2:p.Val16Leu
ENST00000432299.5:c.46G>C ENSP00000416783.1:p.Val16Leu
ENST00000442249.5:c.46G>C ENSP00000387511.1:p.Val16Leu
ENST00000454028.5:c.46G>C ENSP00000392649.1:p.Val16Leu
ENST00000456676.6:c.21G>C
ENST00000457004.5:c.46G>C ENSP00000407773.1:p.Val16Leu
ENST00000536378.5:c.-587G>C ENSP00000444286.2:n.-587G>C
NM_000249.3:c.46G>C , LRG_216t1:c.46G>C NP_000240.1:p.Val16Leu
NM_001258271.1:c.46G>C NP_001245200.1:p.Val16Leu
NM_001258273.1:c.-587G>C NP_001245202.1:n.-587G>C
XM_005265161.1:c.46G>C XP_005265218.1:p.Val16Leu
XM_005265164.1:c.-673G>C XP_005265221.1:n.-673G>C
NM_001167617.2:c.-471G>C NP_001161089.1:n.-471G>C
NM_001167618.2:c.-900G>C NP_001161090.1:n.-900G>C
NM_001167619.2:c.-813G>C NP_001161091.1:n.-813G>C
NM_001258274.2:c.-1050G>C NP_001245203.1:n.-1050G>C
NM_001354615.1:c.-581G>C NP_001341544.1:n.-581G>C
NM_001354616.1:c.-581G>C NP_001341545.1:n.-581G>C
NM_001354617.1:c.-673G>C NP_001341546.1:n.-673G>C
NM_001354618.1:c.-905G>C NP_001341547.1:n.-905G>C
NM_001354619.1:c.-1029G>C NP_001341548.1:n.-1029G>C
NM_001354620.1:c.-239G>C NP_001341549.1:n.-239G>C
NM_001354621.1:c.-998G>C NP_001341550.1:n.-998G>C
NM_001354622.1:c.-1111G>C NP_001341551.1:n.-1111G>C
NM_001354623.1:c.-1020G>C NP_001341552.1:n.-1020G>C
NM_001354624.1:c.-781G>C NP_001341553.1:n.-781G>C
NM_001354625.1:c.-679G>C NP_001341554.1:n.-679G>C
NM_001354626.1:c.-776G>C NP_001341555.1:n.-776G>C
NM_001354627.1:c.-1008G>C NP_001341556.1:n.-1008G>C
NM_001354628.1:c.46G>C NP_001341557.1:p.Val16Leu
NM_001354629.1:c.46G>C NP_001341558.1:p.Val16Leu
NM_001354630.1:c.46G>C NP_001341559.1:p.Val16Leu
XM_005265161.2:c.46G>C XP_005265218.1:p.Val16Leu
XM_017006450.2:c.-766G>C XP_016861939.1:n.-766G>C
NM_000249.4:c.46G>C MANE Select NP_000240.1:p.Val16Leu
NM_001167617.3:c.-471G>C NP_001161089.1:n.-471G>C
NM_001167618.3:c.-900G>C NP_001161090.1:n.-900G>C
NM_001167619.3:c.-813G>C NP_001161091.1:n.-813G>C
NM_001258271.2:c.46G>C NP_001245200.1:p.Val16Leu
NM_001258273.2:c.-587G>C NP_001245202.1:n.-587G>C
NM_001258274.3:c.-1050G>C NP_001245203.1:n.-1050G>C
NM_001354615.2:c.-581G>C NP_001341544.1:n.-581G>C
NM_001354616.2:c.-581G>C NP_001341545.1:n.-581G>C
NM_001354617.2:c.-673G>C NP_001341546.1:n.-673G>C
NM_001354618.2:c.-905G>C NP_001341547.1:n.-905G>C
NM_001354619.2:c.-1029G>C NP_001341548.1:n.-1029G>C
NM_001354620.2:c.-239G>C NP_001341549.1:n.-239G>C
NM_001354621.2:c.-998G>C NP_001341550.1:n.-998G>C
NM_001354622.2:c.-1111G>C NP_001341551.1:n.-1111G>C
NM_001354623.2:c.-1020G>C NP_001341552.1:n.-1020G>C
NM_001354624.2:c.-781G>C NP_001341553.1:n.-781G>C
NM_001354625.2:c.-679G>C NP_001341554.1:n.-679G>C
NM_001354626.2:c.-776G>C NP_001341555.1:n.-776G>C
NM_001354627.2:c.-1008G>C NP_001341556.1:n.-1008G>C
NM_001354628.2:c.46G>C NP_001341557.1:p.Val16Leu
NM_001354629.2:c.46G>C NP_001341558.1:p.Val16Leu
NM_001354630.2:c.46G>C NP_001341559.1:p.Val16Leu