Canonical Allele Identifier: CA2742038356

Gene: MLH1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.[37050555C>T;37050556G>T] , CM000665.2:g.[37050555C>T;37050556G>T]	GRCh38
NC_000003.11:g.[37092046C>T;37092047G>T] , CM000665.1:g.[37092046C>T;37092047G>T]	GRCh37
NC_000003.10:g.[37067050C>T;37067051G>T]	NCBI36
NG_007109.2:g.[62206C>T;62207G>T] , LRG_216:g.[62206C>T;62207G>T]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.[1737C>T;1738G>T]	ENSP00000416476.2:p.Ala580Ser
ENST00000429117.6:c.[1879C>T;1880G>T]	ENSP00000407019.2:p.[Arg627Cys;Arg627Leu]
ENST00000456676.7:c.[1966C>T;1967G>T]	ENSP00000416687.3:p.[Arg656Cys;Arg656Leu]
ENST00000492474.6:c.[1450C>T;1451G>T]	ENSP00000518393.1:p.Arg484Phe
ENST00000616768.6:c.[2080C>T;2081G>T]	ENSP00000480669.3:p.Arg694Phe
ENST00000673673.2:c.[2008C>T;2009G>T]	ENSP00000500979.2:p.Arg670Phe
ENST00000231790.8:c.[2173C>T;2174G>T] MANE Select	ENSP00000231790.3:p.[Arg725Cys;Arg725Leu]
ENST00000413212.2:c.[*1091C>T;*1092G>T]	ENSP00000400844.2:n.[*1091C>T;*1092G>T]
ENST00000432299.6:c.[*2005C>T;*2006G>T]	ENSP00000416783.1:n.[*2005C>T;*2006G>T]
ENST00000447829.6:c.[*1284C>T;*1285G>T]	ENSP00000399329.2:n.[*1284C>T;*1285G>T]
ENST00000539477.6:c.[1450C>T;1451G>T]	ENSP00000443665.1:p.Arg484Phe
ENST00000616768.5:c.[1117C>T;1118G>T]	ENSP00000480669.2:p.[Arg373Cys;Arg373Leu]
ENST00000673673.1:c.[1961C>T;1962G>T]
ENST00000673741.1:n.[1207C>T;1208G>T]
ENST00000673889.1:n.[1555C>T;1556G>T]
ENST00000673897.1:c.[*1965C>T;*1966G>T]	ENSP00000501109.1:n.[*1965C>T;*1966G>T]
ENST00000673899.1:c.[1441C>T;1442G>T]	ENSP00000501030.1:p.Arg481Phe
ENST00000673947.1:c.[*2313C>T;*2314G>T]	ENSP00000501304.1:n.[*2313C>T;*2314G>T]
ENST00000673972.1:c.[*2051C>T;*2052G>T]	ENSP00000501281.1:n.[*2051C>T;*2052G>T]
ENST00000674019.1:c.[1450C>T;1451G>T]	ENSP00000501081.1:p.[Arg484Cys;Arg484Leu]
ENST00000674111.1:c.[*402C>T;*403G>T]	ENSP00000501162.1:n.[*402C>T;*403G>T]
ENST00000674125.1:n.[884C>T;885G>T]
ENST00000231790.6:c.[2173C>T;2174G>T]	ENSP00000231790.2:p.[Arg725Cys;Arg725Leu]
ENST00000435176.5:c.[1879C>T;1880G>T]	ENSP00000402564.1:p.Arg627Phe
ENST00000455445.6:c.[1450C>T;1451G>T]	ENSP00000398272.2:p.Arg484Phe
ENST00000456676.6:c.[1941C>T;1942G>T]
ENST00000458205.6:c.[1450C>T;1451G>T]	ENSP00000402667.2:p.[Arg484Cys;Arg484Leu]
ENST00000536378.5:c.[1450C>T;1451G>T]	ENSP00000444286.2:p.Arg484Phe
ENST00000539477.5:c.[1450C>T;1451G>T]	ENSP00000443665.1:p.Arg484Phe
NM_000249.3:c.[2173C>T;2174G>T] , LRG_216t1:c.[2173C>T;2174G>T]	NP_000240.1:p.[Arg725Cys;Arg725Leu]
NM_001167617.1:c.[1879C>T;1880G>T]	NP_001161089.1:p.Arg627Phe
NM_001167618.1:c.[1450C>T;1451G>T]	NP_001161090.1:p.Arg484Phe
NM_001167619.1:c.[1450C>T;1451G>T]	NP_001161091.1:p.Arg484Phe
NM_001258271.1:c.[1966C>T;1967G>T]	NP_001245200.1:p.[Arg656Cys;Arg656Leu]
NM_001258273.1:c.[1450C>T;1451G>T]	NP_001245202.1:p.Arg484Phe
NM_001258274.1:c.[1450C>T;1451G>T]	NP_001245203.1:p.Arg484Phe
XM_005265161.1:c.[1966C>T;1967G>T]	XP_005265218.1:p.Arg656Phe
XM_005265163.1:c.[1450C>T;1451G>T]	XP_005265220.1:p.Arg484Phe
XM_005265164.1:c.[1450C>T;1451G>T]	XP_005265221.1:p.[Arg484Cys;Arg484Leu]
XM_005265166.1:c.[1150C>T;1151G>T]	XP_005265223.1:p.Arg384Phe
XM_011533727.1:c.[1099C>T;1100G>T]	XP_011532029.1:p.Arg367Phe
NM_001167617.2:c.[1879C>T;1880G>T]	NP_001161089.1:p.[Arg627Cys;Arg627Leu]
NM_001167618.2:c.[1450C>T;1451G>T]	NP_001161090.1:p.[Arg484Cys;Arg484Leu]
NM_001167619.2:c.[1450C>T;1451G>T]	NP_001161091.1:p.[Arg484Cys;Arg484Leu]
NM_001258274.2:c.[1450C>T;1451G>T]	NP_001245203.1:p.[Arg484Cys;Arg484Leu]
NM_001354615.1:c.[1450C>T;1451G>T]	NP_001341544.1:p.Arg484Phe
NM_001354616.1:c.[1450C>T;1451G>T]	NP_001341545.1:p.Arg484Phe
NM_001354617.1:c.[1450C>T;1451G>T]	NP_001341546.1:p.Arg484Phe
NM_001354618.1:c.[1450C>T;1451G>T]	NP_001341547.1:p.Arg484Phe
NM_001354619.1:c.[1450C>T;1451G>T]	NP_001341548.1:p.[Arg484Cys;Arg484Leu]
NM_001354620.1:c.[1879C>T;1880G>T]	NP_001341549.1:p.Arg627Phe
NM_001354621.1:c.[1150C>T;1151G>T]	NP_001341550.1:p.Arg384Phe
NM_001354622.1:c.[1150C>T;1151G>T]	NP_001341551.1:p.Arg384Phe
NM_001354623.1:c.[1150C>T;1151G>T]	NP_001341552.1:p.[Arg384Cys;Arg384Leu]
NM_001354624.1:c.[1099C>T;1100G>T]	NP_001341553.1:p.Arg367Phe
NM_001354625.1:c.[1099C>T;1100G>T]	NP_001341554.1:p.Arg367Phe
NM_001354626.1:c.[1099C>T;1100G>T]	NP_001341555.1:p.Arg367Phe
NM_001354627.1:c.[1099C>T;1100G>T]	NP_001341556.1:p.[Arg367Cys;Arg367Leu]
NM_001354628.1:c.[2080C>T;2081G>T]	NP_001341557.1:p.[Arg694Cys;Arg694Leu]
NM_001354629.1:c.[2074C>T;2075G>T]	NP_001341558.1:p.[Arg692Cys;Arg692Leu]
NM_001354630.1:c.[2008C>T;2009G>T]	NP_001341559.1:p.[Arg670Cys;Arg670Leu]
XM_005265161.2:c.[1966C>T;1967G>T]	XP_005265218.1:p.Arg656Phe
XM_017006450.2:c.[1150C>T;1151G>T]	XP_016861939.1:p.Arg384Phe
NM_000249.4:c.[2173C>T;2174G>T] MANE Select	NP_000240.1:p.[Arg725Cys;Arg725Leu]
NM_001167617.3:c.[1879C>T;1880G>T]	NP_001161089.1:p.[Arg627Cys;Arg627Leu]
NM_001167618.3:c.[1450C>T;1451G>T]	NP_001161090.1:p.[Arg484Cys;Arg484Leu]
NM_001167619.3:c.[1450C>T;1451G>T]	NP_001161091.1:p.[Arg484Cys;Arg484Leu]
NM_001258271.2:c.[1966C>T;1967G>T]	NP_001245200.1:p.[Arg656Cys;Arg656Leu]
NM_001258273.2:c.[1450C>T;1451G>T]	NP_001245202.1:p.Arg484Phe
NM_001258274.3:c.[1450C>T;1451G>T]	NP_001245203.1:p.[Arg484Cys;Arg484Leu]
NM_001354615.2:c.[1450C>T;1451G>T]	NP_001341544.1:p.Arg484Phe
NM_001354616.2:c.[1450C>T;1451G>T]	NP_001341545.1:p.Arg484Phe
NM_001354617.2:c.[1450C>T;1451G>T]	NP_001341546.1:p.Arg484Phe
NM_001354618.2:c.[1450C>T;1451G>T]	NP_001341547.1:p.Arg484Phe
NM_001354619.2:c.[1450C>T;1451G>T]	NP_001341548.1:p.[Arg484Cys;Arg484Leu]
NM_001354620.2:c.[1879C>T;1880G>T]	NP_001341549.1:p.Arg627Phe
NM_001354621.2:c.[1150C>T;1151G>T]	NP_001341550.1:p.Arg384Phe
NM_001354622.2:c.[1150C>T;1151G>T]	NP_001341551.1:p.Arg384Phe
NM_001354623.2:c.[1150C>T;1151G>T]	NP_001341552.1:p.[Arg384Cys;Arg384Leu]
NM_001354624.2:c.[1099C>T;1100G>T]	NP_001341553.1:p.Arg367Phe
NM_001354625.2:c.[1099C>T;1100G>T]	NP_001341554.1:p.Arg367Phe
NM_001354626.2:c.[1099C>T;1100G>T]	NP_001341555.1:p.Arg367Phe
NM_001354627.2:c.[1099C>T;1100G>T]	NP_001341556.1:p.[Arg367Cys;Arg367Leu]
NM_001354628.2:c.[2080C>T;2081G>T]	NP_001341557.1:p.[Arg694Cys;Arg694Leu]
NM_001354629.2:c.[2074C>T;2075G>T]	NP_001341558.1:p.[Arg692Cys;Arg692Leu]
NM_001354630.2:c.[2008C>T;2009G>T]	NP_001341559.1:p.[Arg670Cys;Arg670Leu]