Canonical Allele Identifier: CA2580069345

Gene: MLH1

Linked Data

• ClinVar Variation Id: 2452042
• ClinVar RCV Id: RCV003172136
• dbSNP Id: rs868796932

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36993543C>G , CM000665.2:g.36993543C>G	GRCh38
NC_000003.11:g.37035034C>G , CM000665.1:g.37035034C>G	GRCh37
NC_000003.10:g.37010038C>G	NCBI36
NG_007109.2:g.5194C>G , LRG_216:g.5194C>G
NG_008418.1:g.4762G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000413740.2:c.-5C>G	ENSP00000416476.2:n.-5C>G
ENST00000450420.6:c.-5C>G	ENSP00000393006.2:n.-5C>G
ENST00000456676.7:c.-5C>G	ENSP00000416687.3:n.-5C>G
ENST00000458009.6:c.-5C>G	ENSP00000411066.2:n.-5C>G
ENST00000616768.6:c.-5C>G	ENSP00000480669.3:n.-5C>G
ENST00000673673.2:c.-5C>G	ENSP00000500979.2:n.-5C>G
ENST00000231790.8:c.-5C>G MANE Select	ENSP00000231790.3:n.-5C>G
ENST00000432299.6:c.-5C>G	ENSP00000416783.1:n.-5C>G
ENST00000442249.6:n.11C>G
ENST00000673713.1:n.27C>G
ENST00000673715.1:c.-5C>G	ENSP00000501301.1:n.-5C>G
ENST00000673897.1:c.-5C>G	ENSP00000501109.1:n.-5C>G
ENST00000673899.1:c.-5C>G	ENSP00000501030.1:n.-5C>G
ENST00000673947.1:c.-5C>G	ENSP00000501304.1:n.-5C>G
ENST00000673972.1:c.-5C>G	ENSP00000501281.1:n.-5C>G
ENST00000674111.1:c.-5C>G	ENSP00000501162.1:n.-5C>G
ENST00000231790.6:c.-5C>G	ENSP00000231790.2:n.-5C>G
ENST00000432299.5:c.-5C>G	ENSP00000416783.1:n.-5C>G
ENST00000442249.5:c.-5C>G	ENSP00000387511.1:n.-5C>G
ENST00000454028.5:c.-5C>G	ENSP00000392649.1:n.-5C>G
ENST00000457004.5:c.-5C>G	ENSP00000407773.1:n.-5C>G
ENST00000536378.5:c.-637C>G	ENSP00000444286.2:n.-637C>G
NM_000249.3:c.-5C>G , LRG_216t1:c.-5C>G	NP_000240.1:n.-5C>G
NM_001258271.1:c.-5C>G	NP_001245200.1:n.-5C>G
NM_001258273.1:c.-637C>G	NP_001245202.1:n.-637C>G
XM_005265161.1:c.-5C>G	XP_005265218.1:n.-5C>G
XM_005265164.1:c.-723C>G	XP_005265221.1:n.-723C>G
NM_001167617.2:c.-521C>G	NP_001161089.1:n.-521C>G
NM_001167618.2:c.-950C>G	NP_001161090.1:n.-950C>G
NM_001167619.2:c.-863C>G	NP_001161091.1:n.-863C>G
NM_001258274.2:c.-1100C>G	NP_001245203.1:n.-1100C>G
NM_001354615.1:c.-631C>G	NP_001341544.1:n.-631C>G
NM_001354616.1:c.-631C>G	NP_001341545.1:n.-631C>G
NM_001354617.1:c.-723C>G	NP_001341546.1:n.-723C>G
NM_001354618.1:c.-955C>G	NP_001341547.1:n.-955C>G
NM_001354619.1:c.-1079C>G	NP_001341548.1:n.-1079C>G
NM_001354620.1:c.-289C>G	NP_001341549.1:n.-289C>G
NM_001354621.1:c.-1048C>G	NP_001341550.1:n.-1048C>G
NM_001354622.1:c.-1161C>G	NP_001341551.1:n.-1161C>G
NM_001354623.1:c.-1070C>G	NP_001341552.1:n.-1070C>G
NM_001354624.1:c.-831C>G	NP_001341553.1:n.-831C>G
NM_001354625.1:c.-729C>G	NP_001341554.1:n.-729C>G
NM_001354626.1:c.-826C>G	NP_001341555.1:n.-826C>G
NM_001354627.1:c.-1058C>G	NP_001341556.1:n.-1058C>G
NM_001354628.1:c.-5C>G	NP_001341557.1:n.-5C>G
NM_001354629.1:c.-5C>G	NP_001341558.1:n.-5C>G
NM_001354630.1:c.-5C>G	NP_001341559.1:n.-5C>G
XM_005265161.2:c.-5C>G	XP_005265218.1:n.-5C>G
XM_017006450.2:c.-816C>G	XP_016861939.1:n.-816C>G
NM_000249.4:c.-5C>G MANE Select	NP_000240.1:n.-5C>G
NM_001167617.3:c.-521C>G	NP_001161089.1:n.-521C>G
NM_001167618.3:c.-950C>G	NP_001161090.1:n.-950C>G
NM_001167619.3:c.-863C>G	NP_001161091.1:n.-863C>G
NM_001258271.2:c.-5C>G	NP_001245200.1:n.-5C>G
NM_001258273.2:c.-637C>G	NP_001245202.1:n.-637C>G
NM_001258274.3:c.-1100C>G	NP_001245203.1:n.-1100C>G
NM_001354615.2:c.-631C>G	NP_001341544.1:n.-631C>G
NM_001354616.2:c.-631C>G	NP_001341545.1:n.-631C>G
NM_001354617.2:c.-723C>G	NP_001341546.1:n.-723C>G
NM_001354618.2:c.-955C>G	NP_001341547.1:n.-955C>G
NM_001354619.2:c.-1079C>G	NP_001341548.1:n.-1079C>G
NM_001354620.2:c.-289C>G	NP_001341549.1:n.-289C>G
NM_001354621.2:c.-1048C>G	NP_001341550.1:n.-1048C>G
NM_001354622.2:c.-1161C>G	NP_001341551.1:n.-1161C>G
NM_001354623.2:c.-1070C>G	NP_001341552.1:n.-1070C>G
NM_001354624.2:c.-831C>G	NP_001341553.1:n.-831C>G
NM_001354625.2:c.-729C>G	NP_001341554.1:n.-729C>G
NM_001354626.2:c.-826C>G	NP_001341555.1:n.-826C>G
NM_001354627.2:c.-1058C>G	NP_001341556.1:n.-1058C>G
NM_001354628.2:c.-5C>G	NP_001341557.1:n.-5C>G
NM_001354629.2:c.-5C>G	NP_001341558.1:n.-5C>G
NM_001354630.2:c.-5C>G	NP_001341559.1:n.-5C>G