Canonical Allele Identifier: CA009474

Gene: MLH1

Linked Data

• ClinVar Variation Id: 90124
• ClinVar RCV Id: RCV000075610 ; RCV003451123
• dbSNP Id: rs11541859
• MyVariant Identifiers: chr3:g.37042503G>T (hg19) ; chr3:g.37001012G>T (hg38)
• PubMed: PMID:11925604 ; PMID:12139794 ; PMID:15200905 ; PMID:15309712 ; PMID:18713544

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.37001012G>T , CM000665.2:g.37001012G>T	GRCh38
NC_000003.11:g.37042503G>T , CM000665.1:g.37042503G>T	GRCh37
NC_000003.10:g.37017507G>T	NCBI36
NG_007109.2:g.12663G>T , LRG_216:g.12663G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.265G>T	ENSP00000416476.2:p.Glu89Ter
ENST00000429117.6:c.-25G>T	ENSP00000407019.2:n.-25G>T
ENST00000450420.6:c.265G>T	ENSP00000393006.2:p.Glu89Ter
ENST00000456676.7:c.265G>T	ENSP00000416687.3:p.Glu89Ter
ENST00000458009.6:c.265G>T	ENSP00000411066.2:p.Glu89Ter
ENST00000492474.6:c.-459G>T	ENSP00000518393.1:n.-459G>T
ENST00000616768.6:c.265G>T	ENSP00000480669.3:p.Glu89Ter
ENST00000673673.2:c.265G>T	ENSP00000500979.2:p.Glu89Ter
ENST00000231790.8:c.265G>T MANE Select	ENSP00000231790.3:p.Glu89Ter
ENST00000413212.2:c.-459G>T	ENSP00000400844.2:n.-459G>T
ENST00000432299.6:c.*345G>T	ENSP00000416783.1:n.*345G>T
ENST00000441265.6:c.-459G>T	ENSP00000398392.2:n.-459G>T
ENST00000442249.6:n.280G>T
ENST00000447829.6:c.-25G>T	ENSP00000399329.2:n.-25G>T
ENST00000539477.6:c.-367G>T	ENSP00000443665.1:n.-367G>T
ENST00000673673.1:c.218G>T
ENST00000673713.1:n.296G>T
ENST00000673715.1:c.265G>T	ENSP00000501301.1:p.Glu89Ter
ENST00000673897.1:c.*57G>T	ENSP00000501109.1:n.*57G>T
ENST00000673899.1:c.265G>T	ENSP00000501030.1:p.Glu89Ter
ENST00000673947.1:c.*405G>T	ENSP00000501304.1:n.*405G>T
ENST00000673972.1:c.*143G>T	ENSP00000501281.1:n.*143G>T
ENST00000673990.1:n.250G>T
ENST00000674019.1:c.-459G>T	ENSP00000501081.1:n.-459G>T
ENST00000674107.1:n.207G>T
ENST00000674111.1:c.265G>T	ENSP00000501162.1:p.Glu89Ter
ENST00000231790.6:c.265G>T	ENSP00000231790.2:p.Glu89Ter
ENST00000429117.5:c.-25G>T	ENSP00000407019.1:n.-25G>T
ENST00000432299.5:c.*345G>T	ENSP00000416783.1:n.*345G>T
ENST00000435176.5:c.-25G>T	ENSP00000402564.1:n.-25G>T
ENST00000441265.5:c.-367G>T	ENSP00000398392.1:n.-367G>T
ENST00000442249.5:c.*57G>T	ENSP00000387511.1:n.*57G>T
ENST00000454028.5:c.*143G>T	ENSP00000392649.1:n.*143G>T
ENST00000455445.6:c.-459G>T	ENSP00000398272.2:n.-459G>T
ENST00000456676.6:c.240G>T
ENST00000457004.5:c.*86-3389G>T	ENSP00000407773.1:n.*86-3389G>T
ENST00000458205.6:c.-459G>T	ENSP00000402667.2:n.-459G>T
ENST00000466900.5:n.192G>T
ENST00000476172.5:n.387G>T
ENST00000485889.1:n.269G>T
ENST00000492474.5:n.288G>T
ENST00000536378.5:c.-459G>T	ENSP00000444286.2:n.-459G>T
ENST00000539477.5:c.-367G>T	ENSP00000443665.1:n.-367G>T
NM_000249.3:c.265G>T , LRG_216t1:c.265G>T	NP_000240.1:p.Glu89Ter
NM_001167617.1:c.-25G>T	NP_001161089.1:n.-25G>T
NM_001167618.1:c.-459G>T	NP_001161090.1:n.-459G>T
NM_001167619.1:c.-367G>T	NP_001161091.1:n.-367G>T
NM_001258271.1:c.265G>T	NP_001245200.1:p.Glu89Ter
NM_001258273.1:c.-459G>T	NP_001245202.1:n.-459G>T
NM_001258274.1:c.-459G>T	NP_001245203.1:n.-459G>T
XM_005265161.1:c.265G>T	XP_005265218.1:p.Glu89Ter
XM_005265163.1:c.-459G>T	XP_005265220.1:n.-459G>T
XM_005265164.1:c.-459G>T	XP_005265221.1:n.-459G>T
XM_005265166.1:c.-665G>T	XP_005265223.1:n.-665G>T
XM_011533727.1:c.-562G>T	XP_011532029.1:n.-562G>T
NM_001167617.2:c.-25G>T	NP_001161089.1:n.-25G>T
NM_001167618.2:c.-459G>T	NP_001161090.1:n.-459G>T
NM_001167619.2:c.-367G>T	NP_001161091.1:n.-367G>T
NM_001258274.2:c.-459G>T	NP_001245203.1:n.-459G>T
NM_001354615.1:c.-362G>T	NP_001341544.1:n.-362G>T
NM_001354616.1:c.-367G>T	NP_001341545.1:n.-367G>T
NM_001354617.1:c.-459G>T	NP_001341546.1:n.-459G>T
NM_001354618.1:c.-459G>T	NP_001341547.1:n.-459G>T
NM_001354619.1:c.-459G>T	NP_001341548.1:n.-459G>T
NM_001354620.1:c.-25G>T	NP_001341549.1:n.-25G>T
NM_001354621.1:c.-552G>T	NP_001341550.1:n.-552G>T
NM_001354622.1:c.-665G>T	NP_001341551.1:n.-665G>T
NM_001354623.1:c.-665G>T	NP_001341552.1:n.-665G>T
NM_001354624.1:c.-562G>T	NP_001341553.1:n.-562G>T
NM_001354625.1:c.-465G>T	NP_001341554.1:n.-465G>T
NM_001354626.1:c.-562G>T	NP_001341555.1:n.-562G>T
NM_001354627.1:c.-562G>T	NP_001341556.1:n.-562G>T
NM_001354628.1:c.265G>T	NP_001341557.1:p.Glu89Ter
NM_001354629.1:c.208-3389G>T	NP_001341558.1:n.208-3389G>T
NM_001354630.1:c.265G>T	NP_001341559.1:p.Glu89Ter
XM_005265161.2:c.265G>T	XP_005265218.1:p.Glu89Ter
XM_017006450.2:c.-552G>T	XP_016861939.1:n.-552G>T
NM_000249.4:c.265G>T MANE Select	NP_000240.1:p.Glu89Ter
NM_001167617.3:c.-25G>T	NP_001161089.1:n.-25G>T
NM_001167618.3:c.-459G>T	NP_001161090.1:n.-459G>T
NM_001167619.3:c.-367G>T	NP_001161091.1:n.-367G>T
NM_001258271.2:c.265G>T	NP_001245200.1:p.Glu89Ter
NM_001258273.2:c.-459G>T	NP_001245202.1:n.-459G>T
NM_001258274.3:c.-459G>T	NP_001245203.1:n.-459G>T
NM_001354615.2:c.-362G>T	NP_001341544.1:n.-362G>T
NM_001354616.2:c.-367G>T	NP_001341545.1:n.-367G>T
NM_001354617.2:c.-459G>T	NP_001341546.1:n.-459G>T
NM_001354618.2:c.-459G>T	NP_001341547.1:n.-459G>T
NM_001354619.2:c.-459G>T	NP_001341548.1:n.-459G>T
NM_001354620.2:c.-25G>T	NP_001341549.1:n.-25G>T
NM_001354621.2:c.-552G>T	NP_001341550.1:n.-552G>T
NM_001354622.2:c.-665G>T	NP_001341551.1:n.-665G>T
NM_001354623.2:c.-665G>T	NP_001341552.1:n.-665G>T
NM_001354624.2:c.-562G>T	NP_001341553.1:n.-562G>T
NM_001354625.2:c.-465G>T	NP_001341554.1:n.-465G>T
NM_001354626.2:c.-562G>T	NP_001341555.1:n.-562G>T
NM_001354627.2:c.-562G>T	NP_001341556.1:n.-562G>T
NM_001354628.2:c.265G>T	NP_001341557.1:p.Glu89Ter
NM_001354629.2:c.208-3389G>T	NP_001341558.1:n.208-3389G>T
NM_001354630.2:c.265G>T	NP_001341559.1:p.Glu89Ter