Canonical Allele Identifier: CA011026

Gene: MLH1

Linked Data

• ClinVar Variation Id: 90274
• ClinVar RCV Id: RCV000075763 ; RCV000162610 ; RCV000483320 ; RCV000680175 ; RCV000791372
• dbSNP Id: rs63750648
• MyVariant Identifiers: chr3:g.37035093A>T (hg19) ; chr3:g.36993602A>T (hg38)
• PubMed: PMID:12362047 ; PMID:12537657 ; PMID:15475387 ; PMID:18383312 ; PMID:20864636

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36993602A>T , CM000665.2:g.36993602A>T	GRCh38
NC_000003.11:g.37035093A>T , CM000665.1:g.37035093A>T	GRCh37
NC_000003.10:g.37010097A>T	NCBI36
NG_007109.2:g.5253A>T , LRG_216:g.5253A>T
NG_008418.1:g.4703T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.55A>T	ENSP00000416476.2:p.Ile19Phe
ENST00000450420.6:c.55A>T	ENSP00000393006.2:p.Ile19Phe
ENST00000456676.7:c.55A>T	ENSP00000416687.3:p.Ile19Phe
ENST00000458009.6:c.55A>T	ENSP00000411066.2:p.Ile19Phe
ENST00000616768.6:c.55A>T	ENSP00000480669.3:p.Ile19Phe
ENST00000673673.2:c.55A>T	ENSP00000500979.2:p.Ile19Phe
ENST00000231790.8:c.55A>T MANE Select	ENSP00000231790.3:p.Ile19Phe
ENST00000432299.6:c.55A>T	ENSP00000416783.1:p.Ile19Phe
ENST00000442249.6:n.70A>T
ENST00000673673.1:c.8A>T
ENST00000673713.1:n.86A>T
ENST00000673715.1:c.55A>T	ENSP00000501301.1:p.Ile19Phe
ENST00000673897.1:c.55A>T	ENSP00000501109.1:p.Ile19Phe
ENST00000673899.1:c.55A>T	ENSP00000501030.1:p.Ile19Phe
ENST00000673947.1:c.55A>T	ENSP00000501304.1:p.Ile19Phe
ENST00000673972.1:c.55A>T	ENSP00000501281.1:p.Ile19Phe
ENST00000674111.1:c.55A>T	ENSP00000501162.1:p.Ile19Phe
ENST00000231790.6:c.55A>T	ENSP00000231790.2:p.Ile19Phe
ENST00000432299.5:c.55A>T	ENSP00000416783.1:p.Ile19Phe
ENST00000442249.5:c.55A>T	ENSP00000387511.1:p.Ile19Phe
ENST00000454028.5:c.55A>T	ENSP00000392649.1:p.Ile19Phe
ENST00000456676.6:c.30A>T
ENST00000457004.5:c.55A>T	ENSP00000407773.1:p.Ile19Phe
ENST00000536378.5:c.-578A>T	ENSP00000444286.2:n.-578A>T
NM_000249.3:c.55A>T , LRG_216t1:c.55A>T	NP_000240.1:p.Ile19Phe
NM_001258271.1:c.55A>T	NP_001245200.1:p.Ile19Phe
NM_001258273.1:c.-578A>T	NP_001245202.1:n.-578A>T
XM_005265161.1:c.55A>T	XP_005265218.1:p.Ile19Phe
XM_005265164.1:c.-664A>T	XP_005265221.1:n.-664A>T
NM_001167617.2:c.-462A>T	NP_001161089.1:n.-462A>T
NM_001167618.2:c.-891A>T	NP_001161090.1:n.-891A>T
NM_001167619.2:c.-804A>T	NP_001161091.1:n.-804A>T
NM_001258274.2:c.-1041A>T	NP_001245203.1:n.-1041A>T
NM_001354615.1:c.-572A>T	NP_001341544.1:n.-572A>T
NM_001354616.1:c.-572A>T	NP_001341545.1:n.-572A>T
NM_001354617.1:c.-664A>T	NP_001341546.1:n.-664A>T
NM_001354618.1:c.-896A>T	NP_001341547.1:n.-896A>T
NM_001354619.1:c.-1020A>T	NP_001341548.1:n.-1020A>T
NM_001354620.1:c.-230A>T	NP_001341549.1:n.-230A>T
NM_001354621.1:c.-989A>T	NP_001341550.1:n.-989A>T
NM_001354622.1:c.-1102A>T	NP_001341551.1:n.-1102A>T
NM_001354623.1:c.-1011A>T	NP_001341552.1:n.-1011A>T
NM_001354624.1:c.-772A>T	NP_001341553.1:n.-772A>T
NM_001354625.1:c.-670A>T	NP_001341554.1:n.-670A>T
NM_001354626.1:c.-767A>T	NP_001341555.1:n.-767A>T
NM_001354627.1:c.-999A>T	NP_001341556.1:n.-999A>T
NM_001354628.1:c.55A>T	NP_001341557.1:p.Ile19Phe
NM_001354629.1:c.55A>T	NP_001341558.1:p.Ile19Phe
NM_001354630.1:c.55A>T	NP_001341559.1:p.Ile19Phe
XM_005265161.2:c.55A>T	XP_005265218.1:p.Ile19Phe
XM_017006450.2:c.-757A>T	XP_016861939.1:n.-757A>T
NM_000249.4:c.55A>T MANE Select	NP_000240.1:p.Ile19Phe
NM_001167617.3:c.-462A>T	NP_001161089.1:n.-462A>T
NM_001167618.3:c.-891A>T	NP_001161090.1:n.-891A>T
NM_001167619.3:c.-804A>T	NP_001161091.1:n.-804A>T
NM_001258271.2:c.55A>T	NP_001245200.1:p.Ile19Phe
NM_001258273.2:c.-578A>T	NP_001245202.1:n.-578A>T
NM_001258274.3:c.-1041A>T	NP_001245203.1:n.-1041A>T
NM_001354615.2:c.-572A>T	NP_001341544.1:n.-572A>T
NM_001354616.2:c.-572A>T	NP_001341545.1:n.-572A>T
NM_001354617.2:c.-664A>T	NP_001341546.1:n.-664A>T
NM_001354618.2:c.-896A>T	NP_001341547.1:n.-896A>T
NM_001354619.2:c.-1020A>T	NP_001341548.1:n.-1020A>T
NM_001354620.2:c.-230A>T	NP_001341549.1:n.-230A>T
NM_001354621.2:c.-989A>T	NP_001341550.1:n.-989A>T
NM_001354622.2:c.-1102A>T	NP_001341551.1:n.-1102A>T
NM_001354623.2:c.-1011A>T	NP_001341552.1:n.-1011A>T
NM_001354624.2:c.-772A>T	NP_001341553.1:n.-772A>T
NM_001354625.2:c.-670A>T	NP_001341554.1:n.-670A>T
NM_001354626.2:c.-767A>T	NP_001341555.1:n.-767A>T
NM_001354627.2:c.-999A>T	NP_001341556.1:n.-999A>T
NM_001354628.2:c.55A>T	NP_001341557.1:p.Ile19Phe
NM_001354629.2:c.55A>T	NP_001341558.1:p.Ile19Phe
NM_001354630.2:c.55A>T	NP_001341559.1:p.Ile19Phe