Canonical Allele Identifier: CA010235
Gene: MLH1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 17096
dbSNP Id: rs28930073

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.37007004G>C , CM000665.2:g.37007004G>C GRCh38
NC_000003.11:g.37048495G>C , CM000665.1:g.37048495G>C GRCh37
NC_000003.10:g.37023499G>C NCBI36
NG_007109.2:g.18655G>C , LRG_216:g.18655G>C

Transcript Alleles

HGVS Amino-acid change
NM_000249.3:c.394G>C , LRG_216t1:c.394G>C NP_000240.1:p.Asp132His
NM_001167617.1:c.100G>C VV NP_001161089.1:p.Asp34His
NM_001167618.1:c.-330G>C VV NP_001161090.1:p.=
NM_001167619.1:c.-238G>C VV NP_001161091.1:p.=
NM_001258271.1:c.394G>C VV NP_001245200.1:p.Asp132His
NM_001258273.1:c.-330G>C VV NP_001245202.1:p.=
NM_001258274.1:c.-330G>C VV NP_001245203.1:p.=
XM_005265161.1:c.394G>C XP_005265218.1:p.Asp132His
XM_005265163.1:c.-330G>C XP_005265220.1:p.=
XM_005265164.1:c.-330G>C XP_005265221.1:p.=
XM_005265166.1:c.-536G>C XP_005265223.1:p.=
XM_011533727.1:c.-433G>C XP_011532029.1:p.=
NM_001167617.2:c.100G>C VV NP_001161089.1:p.Asp34His
NM_001167618.2:c.-330G>C VV NP_001161090.1:p.=
NM_001167619.2:c.-238G>C VV NP_001161091.1:p.=
NM_001258274.2:c.-330G>C VV NP_001245203.1:p.=
NM_001354615.1:c.-238G>C VV NP_001341544.1:p.=
NM_001354616.1:c.-238G>C VV NP_001341545.1:p.=
NM_001354617.1:c.-330G>C VV NP_001341546.1:p.=
NM_001354618.1:c.-330G>C VV NP_001341547.1:p.=
NM_001354619.1:c.-330G>C VV NP_001341548.1:p.=
NM_001354620.1:c.100G>C VV NP_001341549.1:p.Asp34His
NM_001354621.1:c.-423G>C VV NP_001341550.1:p.=
NM_001354622.1:c.-536G>C VV NP_001341551.1:p.=
NM_001354623.1:c.-536G>C VV NP_001341552.1:p.=
NM_001354624.1:c.-433G>C VV NP_001341553.1:p.=
NM_001354625.1:c.-341G>C VV NP_001341554.1:p.=
NM_001354626.1:c.-433G>C VV NP_001341555.1:p.=
NM_001354627.1:c.-433G>C VV NP_001341556.1:p.=
NM_001354628.1:c.394G>C VV NP_001341557.1:p.Asp132His
NM_001354629.1:c.295G>C VV NP_001341558.1:p.Asp99His
NM_001354630.1:c.394G>C VV NP_001341559.1:p.Asp132His
XM_005265161.2:c.394G>C XP_005265218.1:p.Asp132His
XM_017006450.2:c.-423G>C XP_016861939.1:p.=
ENST00000231790.6:c.394G>C ENSP00000231790.2:p.Asp132His
ENST00000429117.5:c.100G>C ENSP00000407019.1:p.Asp34His
ENST00000432299.5:c.*474G>C ENSP00000416783.1:p.=
ENST00000435176.5:c.100G>C ENSP00000402564.1:p.Asp34His
ENST00000441265.5:c.-238G>C ENSP00000398392.1:p.=
ENST00000442249.5:c.*186G>C ENSP00000387511.1:p.=
ENST00000454028.5:c.*267G>C ENSP00000392649.1:p.=
ENST00000455445.6:c.-330G>C ENSP00000398272.2:p.=
ENST00000456676.6:n.369G>C
ENST00000457004.5:c.*173G>C ENSP00000407773.1:p.=
ENST00000458205.6:c.-330G>C ENSP00000402667.2:p.=
ENST00000466900.5:n.427G>C
ENST00000485889.1:n.398G>C
ENST00000492474.5:n.417G>C
ENST00000536378.5:c.-330G>C ENSP00000444286.2:p.=
ENST00000539477.5:c.-238G>C ENSP00000443665.1:p.=