Canonical Allele Identifier: CA005522

Gene: MLH1

Linked Data

• ClinVar Variation Id: 89749
• ClinVar RCV Id: RCV000075223
• dbSNP Id: rs63750098
• MyVariant Identifiers: chr3:g.37038139T>A (hg19) ; chr3:g.36996648T>A (hg38)
• PubMed: PMID:15475387 ; PMID:16203774 ; PMID:16395668 ; PMID:18383312

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36996648T>A , CM000665.2:g.36996648T>A	GRCh38
NC_000003.11:g.37038139T>A , CM000665.1:g.37038139T>A	GRCh37
NC_000003.10:g.37013143T>A	NCBI36
NG_007109.2:g.8299T>A , LRG_216:g.8299T>A
NG_008418.1:g.1657A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.146T>A	ENSP00000416476.2:p.Val49Glu
ENST00000429117.6:c.-144T>A	ENSP00000407019.2:n.-144T>A
ENST00000450420.6:c.146T>A	ENSP00000393006.2:p.Val49Glu
ENST00000456676.7:c.146T>A	ENSP00000416687.3:p.Val49Glu
ENST00000458009.6:c.146T>A	ENSP00000411066.2:p.Val49Glu
ENST00000492474.6:c.-578T>A	ENSP00000518393.1:n.-578T>A
ENST00000616768.6:c.146T>A	ENSP00000480669.3:p.Val49Glu
ENST00000673673.2:c.146T>A	ENSP00000500979.2:p.Val49Glu
ENST00000231790.8:c.146T>A MANE Select	ENSP00000231790.3:p.Val49Glu
ENST00000413212.2:c.-578T>A	ENSP00000400844.2:n.-578T>A
ENST00000432299.6:c.*226T>A	ENSP00000416783.1:n.*226T>A
ENST00000441265.6:c.-578T>A	ENSP00000398392.2:n.-578T>A
ENST00000442249.6:n.161T>A
ENST00000447829.6:c.-144T>A	ENSP00000399329.2:n.-144T>A
ENST00000476172.6:n.1120-1322T>A
ENST00000539477.6:c.-486T>A	ENSP00000443665.1:n.-486T>A
ENST00000673673.1:c.99T>A
ENST00000673686.1:n.136T>A
ENST00000673713.1:n.177T>A
ENST00000673715.1:c.146T>A	ENSP00000501301.1:p.Val49Glu
ENST00000673897.1:c.116+2985T>A	ENSP00000501109.1:n.116+2985T>A
ENST00000673899.1:c.146T>A	ENSP00000501030.1:p.Val49Glu
ENST00000673947.1:c.*286T>A	ENSP00000501304.1:n.*286T>A
ENST00000673972.1:c.*24T>A	ENSP00000501281.1:n.*24T>A
ENST00000673990.1:n.131T>A
ENST00000674019.1:c.-578T>A	ENSP00000501081.1:n.-578T>A
ENST00000674107.1:n.88T>A
ENST00000674111.1:c.146T>A	ENSP00000501162.1:p.Val49Glu
ENST00000231790.6:c.146T>A	ENSP00000231790.2:p.Val49Glu
ENST00000429117.5:c.-144T>A	ENSP00000407019.1:n.-144T>A
ENST00000432299.5:c.*226T>A	ENSP00000416783.1:n.*226T>A
ENST00000435176.5:c.-144T>A	ENSP00000402564.1:n.-144T>A
ENST00000441265.5:c.-486T>A	ENSP00000398392.1:n.-486T>A
ENST00000442249.5:c.116+2985T>A	ENSP00000387511.1:n.116+2985T>A
ENST00000454028.5:c.*24T>A	ENSP00000392649.1:n.*24T>A
ENST00000455445.6:c.-578T>A	ENSP00000398272.2:n.-578T>A
ENST00000456676.6:c.121T>A
ENST00000457004.5:c.*24T>A	ENSP00000407773.1:n.*24T>A
ENST00000458205.6:c.-723T>A	ENSP00000402667.2:n.-723T>A
ENST00000466900.5:n.73T>A
ENST00000476172.5:n.268T>A
ENST00000485889.1:n.150T>A
ENST00000492474.5:n.169T>A
ENST00000536378.5:c.-517+2985T>A	ENSP00000444286.2:n.-517+2985T>A
ENST00000539477.5:c.-486T>A	ENSP00000443665.1:n.-486T>A
NM_000249.3:c.146T>A , LRG_216t1:c.146T>A	NP_000240.1:p.Val49Glu
NM_001167617.1:c.-144T>A	NP_001161089.1:n.-144T>A
NM_001167618.1:c.-578T>A	NP_001161090.1:n.-578T>A
NM_001167619.1:c.-486T>A	NP_001161091.1:n.-486T>A
NM_001258271.1:c.146T>A	NP_001245200.1:p.Val49Glu
NM_001258273.1:c.-517+2985T>A	NP_001245202.1:n.-517+2985T>A
NM_001258274.1:c.-723T>A	NP_001245203.1:n.-723T>A
XM_005265161.1:c.146T>A	XP_005265218.1:p.Val49Glu
XM_005265163.1:c.-578T>A	XP_005265220.1:n.-578T>A
XM_005265164.1:c.-578T>A	XP_005265221.1:n.-578T>A
XM_005265166.1:c.-784T>A	XP_005265223.1:n.-784T>A
XM_011533727.1:c.-681T>A	XP_011532029.1:n.-681T>A
NM_001167617.2:c.-144T>A	NP_001161089.1:n.-144T>A
NM_001167618.2:c.-578T>A	NP_001161090.1:n.-578T>A
NM_001167619.2:c.-486T>A	NP_001161091.1:n.-486T>A
NM_001258274.2:c.-723T>A	NP_001245203.1:n.-723T>A
NM_001354615.1:c.-481T>A	NP_001341544.1:n.-481T>A
NM_001354616.1:c.-486T>A	NP_001341545.1:n.-486T>A
NM_001354617.1:c.-578T>A	NP_001341546.1:n.-578T>A
NM_001354618.1:c.-578T>A	NP_001341547.1:n.-578T>A
NM_001354619.1:c.-578T>A	NP_001341548.1:n.-578T>A
NM_001354620.1:c.-144T>A	NP_001341549.1:n.-144T>A
NM_001354621.1:c.-671T>A	NP_001341550.1:n.-671T>A
NM_001354622.1:c.-784T>A	NP_001341551.1:n.-784T>A
NM_001354623.1:c.-723+2758T>A	NP_001341552.1:n.-723+2758T>A
NM_001354624.1:c.-681T>A	NP_001341553.1:n.-681T>A
NM_001354625.1:c.-584T>A	NP_001341554.1:n.-584T>A
NM_001354626.1:c.-681T>A	NP_001341555.1:n.-681T>A
NM_001354627.1:c.-681T>A	NP_001341556.1:n.-681T>A
NM_001354628.1:c.146T>A	NP_001341557.1:p.Val49Glu
NM_001354629.1:c.146T>A	NP_001341558.1:p.Val49Glu
NM_001354630.1:c.146T>A	NP_001341559.1:p.Val49Glu
XM_005265161.2:c.146T>A	XP_005265218.1:p.Val49Glu
XM_017006450.2:c.-671T>A	XP_016861939.1:n.-671T>A
NM_000249.4:c.146T>A MANE Select	NP_000240.1:p.Val49Glu
NM_001167617.3:c.-144T>A	NP_001161089.1:n.-144T>A
NM_001167618.3:c.-578T>A	NP_001161090.1:n.-578T>A
NM_001167619.3:c.-486T>A	NP_001161091.1:n.-486T>A
NM_001258271.2:c.146T>A	NP_001245200.1:p.Val49Glu
NM_001258273.2:c.-517+2985T>A	NP_001245202.1:n.-517+2985T>A
NM_001258274.3:c.-723T>A	NP_001245203.1:n.-723T>A
NM_001354615.2:c.-481T>A	NP_001341544.1:n.-481T>A
NM_001354616.2:c.-486T>A	NP_001341545.1:n.-486T>A
NM_001354617.2:c.-578T>A	NP_001341546.1:n.-578T>A
NM_001354618.2:c.-578T>A	NP_001341547.1:n.-578T>A
NM_001354619.2:c.-578T>A	NP_001341548.1:n.-578T>A
NM_001354620.2:c.-144T>A	NP_001341549.1:n.-144T>A
NM_001354621.2:c.-671T>A	NP_001341550.1:n.-671T>A
NM_001354622.2:c.-784T>A	NP_001341551.1:n.-784T>A
NM_001354623.2:c.-723+2758T>A	NP_001341552.1:n.-723+2758T>A
NM_001354624.2:c.-681T>A	NP_001341553.1:n.-681T>A
NM_001354625.2:c.-584T>A	NP_001341554.1:n.-584T>A
NM_001354626.2:c.-681T>A	NP_001341555.1:n.-681T>A
NM_001354627.2:c.-681T>A	NP_001341556.1:n.-681T>A
NM_001354628.2:c.146T>A	NP_001341557.1:p.Val49Glu
NM_001354629.2:c.146T>A	NP_001341558.1:p.Val49Glu
NM_001354630.2:c.146T>A	NP_001341559.1:p.Val49Glu