Canonical Allele Identifier: CA2702480771

Gene: MLH1

Linked Data

• dbSNP Id: rs2125693205

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36993542G>C , CM000665.2:g.36993542G>C	GRCh38
NC_000003.11:g.37035033G>C , CM000665.1:g.37035033G>C	GRCh37
NC_000003.10:g.37010037G>C	NCBI36
NG_007109.2:g.5193G>C , LRG_216:g.5193G>C
NG_008418.1:g.4763C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000413740.2:c.-6G>C	ENSP00000416476.2:n.-6G>C
ENST00000450420.6:c.-6G>C	ENSP00000393006.2:n.-6G>C
ENST00000456676.7:c.-6G>C	ENSP00000416687.3:n.-6G>C
ENST00000458009.6:c.-6G>C	ENSP00000411066.2:n.-6G>C
ENST00000616768.6:c.-6G>C	ENSP00000480669.3:n.-6G>C
ENST00000673673.2:c.-6G>C	ENSP00000500979.2:n.-6G>C
ENST00000231790.8:c.-6G>C MANE Select	ENSP00000231790.3:n.-6G>C
ENST00000432299.6:c.-6G>C	ENSP00000416783.1:n.-6G>C
ENST00000442249.6:n.10G>C
ENST00000673713.1:n.26G>C
ENST00000673715.1:c.-6G>C	ENSP00000501301.1:n.-6G>C
ENST00000673897.1:c.-6G>C	ENSP00000501109.1:n.-6G>C
ENST00000673899.1:c.-6G>C	ENSP00000501030.1:n.-6G>C
ENST00000673947.1:c.-6G>C	ENSP00000501304.1:n.-6G>C
ENST00000673972.1:c.-6G>C	ENSP00000501281.1:n.-6G>C
ENST00000674111.1:c.-6G>C	ENSP00000501162.1:n.-6G>C
ENST00000231790.6:c.-6G>C	ENSP00000231790.2:n.-6G>C
ENST00000432299.5:c.-6G>C	ENSP00000416783.1:n.-6G>C
ENST00000442249.5:c.-6G>C	ENSP00000387511.1:n.-6G>C
ENST00000454028.5:c.-6G>C	ENSP00000392649.1:n.-6G>C
ENST00000457004.5:c.-6G>C	ENSP00000407773.1:n.-6G>C
ENST00000536378.5:c.-638G>C	ENSP00000444286.2:n.-638G>C
NM_000249.3:c.-6G>C , LRG_216t1:c.-6G>C	NP_000240.1:n.-6G>C
NM_001258271.1:c.-6G>C	NP_001245200.1:n.-6G>C
NM_001258273.1:c.-638G>C	NP_001245202.1:n.-638G>C
XM_005265161.1:c.-6G>C	XP_005265218.1:n.-6G>C
XM_005265164.1:c.-724G>C	XP_005265221.1:n.-724G>C
NM_001167617.2:c.-522G>C	NP_001161089.1:n.-522G>C
NM_001167618.2:c.-951G>C	NP_001161090.1:n.-951G>C
NM_001167619.2:c.-864G>C	NP_001161091.1:n.-864G>C
NM_001258274.2:c.-1101G>C	NP_001245203.1:n.-1101G>C
NM_001354615.1:c.-632G>C	NP_001341544.1:n.-632G>C
NM_001354616.1:c.-632G>C	NP_001341545.1:n.-632G>C
NM_001354617.1:c.-724G>C	NP_001341546.1:n.-724G>C
NM_001354618.1:c.-956G>C	NP_001341547.1:n.-956G>C
NM_001354619.1:c.-1080G>C	NP_001341548.1:n.-1080G>C
NM_001354620.1:c.-290G>C	NP_001341549.1:n.-290G>C
NM_001354621.1:c.-1049G>C	NP_001341550.1:n.-1049G>C
NM_001354622.1:c.-1162G>C	NP_001341551.1:n.-1162G>C
NM_001354623.1:c.-1071G>C	NP_001341552.1:n.-1071G>C
NM_001354624.1:c.-832G>C	NP_001341553.1:n.-832G>C
NM_001354625.1:c.-730G>C	NP_001341554.1:n.-730G>C
NM_001354626.1:c.-827G>C	NP_001341555.1:n.-827G>C
NM_001354627.1:c.-1059G>C	NP_001341556.1:n.-1059G>C
NM_001354628.1:c.-6G>C	NP_001341557.1:n.-6G>C
NM_001354629.1:c.-6G>C	NP_001341558.1:n.-6G>C
NM_001354630.1:c.-6G>C	NP_001341559.1:n.-6G>C
XM_005265161.2:c.-6G>C	XP_005265218.1:n.-6G>C
XM_017006450.2:c.-817G>C	XP_016861939.1:n.-817G>C
NM_000249.4:c.-6G>C MANE Select	NP_000240.1:n.-6G>C
NM_001167617.3:c.-522G>C	NP_001161089.1:n.-522G>C
NM_001167618.3:c.-951G>C	NP_001161090.1:n.-951G>C
NM_001167619.3:c.-864G>C	NP_001161091.1:n.-864G>C
NM_001258271.2:c.-6G>C	NP_001245200.1:n.-6G>C
NM_001258273.2:c.-638G>C	NP_001245202.1:n.-638G>C
NM_001258274.3:c.-1101G>C	NP_001245203.1:n.-1101G>C
NM_001354615.2:c.-632G>C	NP_001341544.1:n.-632G>C
NM_001354616.2:c.-632G>C	NP_001341545.1:n.-632G>C
NM_001354617.2:c.-724G>C	NP_001341546.1:n.-724G>C
NM_001354618.2:c.-956G>C	NP_001341547.1:n.-956G>C
NM_001354619.2:c.-1080G>C	NP_001341548.1:n.-1080G>C
NM_001354620.2:c.-290G>C	NP_001341549.1:n.-290G>C
NM_001354621.2:c.-1049G>C	NP_001341550.1:n.-1049G>C
NM_001354622.2:c.-1162G>C	NP_001341551.1:n.-1162G>C
NM_001354623.2:c.-1071G>C	NP_001341552.1:n.-1071G>C
NM_001354624.2:c.-832G>C	NP_001341553.1:n.-832G>C
NM_001354625.2:c.-730G>C	NP_001341554.1:n.-730G>C
NM_001354626.2:c.-827G>C	NP_001341555.1:n.-827G>C
NM_001354627.2:c.-1059G>C	NP_001341556.1:n.-1059G>C
NM_001354628.2:c.-6G>C	NP_001341557.1:n.-6G>C
NM_001354629.2:c.-6G>C	NP_001341558.1:n.-6G>C
NM_001354630.2:c.-6G>C	NP_001341559.1:n.-6G>C