Canonical Allele Identifier: CA2665009978
Gene: MLH1 HGNC NCBI

Linked Data

dbSNP Id: rs779652824
gnomAD v4: 3-37028716-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.37028716C>A , CM000665.2:g.37028716C>A GRCh38
NC_000003.11:g.37070207C>A , CM000665.1:g.37070207C>A GRCh37
NC_000003.10:g.37045211C>A NCBI36
NG_007109.2:g.40367C>A , LRG_216:g.40367C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.1410-68C>A ENSP00000416476.2:n.1410-68C>A
ENST00000429117.6:c.1116-68C>A ENSP00000407019.2:n.1116-68C>A
ENST00000450420.6:c.1410-68C>A ENSP00000393006.2:n.1410-68C>A
ENST00000456676.7:c.1410-68C>A ENSP00000416687.3:n.1410-68C>A
ENST00000458009.6:c.*311-68C>A ENSP00000411066.2:n.*311-68C>A
ENST00000492474.6:c.687-68C>A ENSP00000518393.1:n.687-68C>A
ENST00000616768.6:c.1410-68C>A ENSP00000480669.3:n.1410-68C>A
ENST00000673673.2:c.1410-68C>A ENSP00000500979.2:n.1410-68C>A
ENST00000231790.8:c.1410-68C>A MANE Select ENSP00000231790.3:n.1410-68C>A
ENST00000413212.2:c.*328-68C>A ENSP00000400844.2:n.*328-68C>A
ENST00000432299.6:c.*1242-68C>A ENSP00000416783.1:n.*1242-68C>A
ENST00000441265.6:c.687-68C>A ENSP00000398392.2:n.687-68C>A
ENST00000447829.6:c.*521-68C>A ENSP00000399329.2:n.*521-68C>A
ENST00000539477.6:c.687-68C>A ENSP00000443665.1:n.687-68C>A
ENST00000616768.5:c.447-68C>A ENSP00000480669.2:n.447-68C>A
ENST00000673673.1:c.1363-68C>A
ENST00000673715.1:c.1410-68C>A ENSP00000501301.1:n.1410-68C>A
ENST00000673889.1:n.792-68C>A
ENST00000673897.1:c.*1202-68C>A ENSP00000501109.1:n.*1202-68C>A
ENST00000673899.1:c.678-68C>A ENSP00000501030.1:n.678-68C>A
ENST00000673947.1:c.*1550-68C>A ENSP00000501304.1:n.*1550-68C>A
ENST00000673972.1:c.*1288-68C>A ENSP00000501281.1:n.*1288-68C>A
ENST00000673990.1:n.1301-68C>A
ENST00000674019.1:c.687-68C>A ENSP00000501081.1:n.687-68C>A
ENST00000674107.1:n.1258-68C>A
ENST00000674111.1:c.1410-68C>A ENSP00000501162.1:n.1410-68C>A
ENST00000674125.1:n.53C>A
ENST00000231790.6:c.1410-68C>A ENSP00000231790.2:n.1410-68C>A
ENST00000413212.1:c.485-68C>A
ENST00000413740.1:c.33-68C>A ENSP00000416476.1:n.33-68C>A
ENST00000435176.5:c.1116-68C>A ENSP00000402564.1:n.1116-68C>A
ENST00000450420.5:c.33-68C>A ENSP00000393006.1:n.33-68C>A
ENST00000455445.6:c.687-68C>A ENSP00000398272.2:n.687-68C>A
ENST00000456676.6:c.1385-68C>A
ENST00000458009.5:c.597-68C>A
ENST00000458205.6:c.687-68C>A ENSP00000402667.2:n.687-68C>A
ENST00000536378.5:c.687-68C>A ENSP00000444286.2:n.687-68C>A
ENST00000539477.5:c.687-68C>A ENSP00000443665.1:n.687-68C>A
ENST00000616768.4:c.178-68C>A
NM_000249.3:c.1410-68C>A , LRG_216t1:c.1410-68C>A NP_000240.1:n.1410-68C>A
NM_001167617.1:c.1116-68C>A NP_001161089.1:n.1116-68C>A
NM_001167618.1:c.687-68C>A NP_001161090.1:n.687-68C>A
NM_001167619.1:c.687-68C>A NP_001161091.1:n.687-68C>A
NM_001258271.1:c.1410-68C>A NP_001245200.1:n.1410-68C>A
NM_001258273.1:c.687-68C>A NP_001245202.1:n.687-68C>A
NM_001258274.1:c.687-68C>A NP_001245203.1:n.687-68C>A
XM_005265161.1:c.1203-68C>A XP_005265218.1:n.1203-68C>A
XM_005265163.1:c.687-68C>A XP_005265220.1:n.687-68C>A
XM_005265164.1:c.687-68C>A XP_005265221.1:n.687-68C>A
XM_005265166.1:c.387-68C>A XP_005265223.1:n.387-68C>A
XM_011533727.1:c.336-68C>A XP_011532029.1:n.336-68C>A
NM_001167617.2:c.1116-68C>A NP_001161089.1:n.1116-68C>A
NM_001167618.2:c.687-68C>A NP_001161090.1:n.687-68C>A
NM_001167619.2:c.687-68C>A NP_001161091.1:n.687-68C>A
NM_001258274.2:c.687-68C>A NP_001245203.1:n.687-68C>A
NM_001354615.1:c.687-68C>A NP_001341544.1:n.687-68C>A
NM_001354616.1:c.687-68C>A NP_001341545.1:n.687-68C>A
NM_001354617.1:c.687-68C>A NP_001341546.1:n.687-68C>A
NM_001354618.1:c.687-68C>A NP_001341547.1:n.687-68C>A
NM_001354619.1:c.687-68C>A NP_001341548.1:n.687-68C>A
NM_001354620.1:c.1116-68C>A NP_001341549.1:n.1116-68C>A
NM_001354621.1:c.387-68C>A NP_001341550.1:n.387-68C>A
NM_001354622.1:c.387-68C>A NP_001341551.1:n.387-68C>A
NM_001354623.1:c.387-68C>A NP_001341552.1:n.387-68C>A
NM_001354624.1:c.336-68C>A NP_001341553.1:n.336-68C>A
NM_001354625.1:c.336-68C>A NP_001341554.1:n.336-68C>A
NM_001354626.1:c.336-68C>A NP_001341555.1:n.336-68C>A
NM_001354627.1:c.336-68C>A NP_001341556.1:n.336-68C>A
NM_001354628.1:c.1410-68C>A NP_001341557.1:n.1410-68C>A
NM_001354629.1:c.1311-68C>A NP_001341558.1:n.1311-68C>A
NM_001354630.1:c.1410-68C>A NP_001341559.1:n.1410-68C>A
XM_005265161.2:c.1203-68C>A XP_005265218.1:n.1203-68C>A
XM_017006450.2:c.387-68C>A XP_016861939.1:n.387-68C>A
NM_000249.4:c.1410-68C>A MANE Select NP_000240.1:n.1410-68C>A
NM_001167617.3:c.1116-68C>A NP_001161089.1:n.1116-68C>A
NM_001167618.3:c.687-68C>A NP_001161090.1:n.687-68C>A
NM_001167619.3:c.687-68C>A NP_001161091.1:n.687-68C>A
NM_001258271.2:c.1410-68C>A NP_001245200.1:n.1410-68C>A
NM_001258273.2:c.687-68C>A NP_001245202.1:n.687-68C>A
NM_001258274.3:c.687-68C>A NP_001245203.1:n.687-68C>A
NM_001354615.2:c.687-68C>A NP_001341544.1:n.687-68C>A
NM_001354616.2:c.687-68C>A NP_001341545.1:n.687-68C>A
NM_001354617.2:c.687-68C>A NP_001341546.1:n.687-68C>A
NM_001354618.2:c.687-68C>A NP_001341547.1:n.687-68C>A
NM_001354619.2:c.687-68C>A NP_001341548.1:n.687-68C>A
NM_001354620.2:c.1116-68C>A NP_001341549.1:n.1116-68C>A
NM_001354621.2:c.387-68C>A NP_001341550.1:n.387-68C>A
NM_001354622.2:c.387-68C>A NP_001341551.1:n.387-68C>A
NM_001354623.2:c.387-68C>A NP_001341552.1:n.387-68C>A
NM_001354624.2:c.336-68C>A NP_001341553.1:n.336-68C>A
NM_001354625.2:c.336-68C>A NP_001341554.1:n.336-68C>A
NM_001354626.2:c.336-68C>A NP_001341555.1:n.336-68C>A
NM_001354627.2:c.336-68C>A NP_001341556.1:n.336-68C>A
NM_001354628.2:c.1410-68C>A NP_001341557.1:n.1410-68C>A
NM_001354629.2:c.1311-68C>A NP_001341558.1:n.1311-68C>A
NM_001354630.2:c.1410-68C>A NP_001341559.1:n.1410-68C>A
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