Canonical Allele Identifier: CA005432

Gene: MLH1

Linked Data

• ClinVar Variation Id: 89739
• ClinVar RCV Id: RCV000075213 ; RCV001069994 ; RCV003451028
• dbSNP Id: rs587778914
• MyVariant Identifiers: chr3:g.37038136A>C (hg19) ; chr3:g.36996645A>C (hg38)
• PubMed: PMID:21404117

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36996645A>C , CM000665.2:g.36996645A>C	GRCh38
NC_000003.11:g.37038136A>C , CM000665.1:g.37038136A>C	GRCh37
NC_000003.10:g.37013140A>C	NCBI36
NG_007109.2:g.8296A>C , LRG_216:g.8296A>C
NG_008418.1:g.1660T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.143A>C	ENSP00000416476.2:p.Gln48Pro
ENST00000429117.6:c.-147A>C	ENSP00000407019.2:n.-147A>C
ENST00000450420.6:c.143A>C	ENSP00000393006.2:p.Gln48Pro
ENST00000456676.7:c.143A>C	ENSP00000416687.3:p.Gln48Pro
ENST00000458009.6:c.143A>C	ENSP00000411066.2:p.Gln48Pro
ENST00000492474.6:c.-581A>C	ENSP00000518393.1:n.-581A>C
ENST00000616768.6:c.143A>C	ENSP00000480669.3:p.Gln48Pro
ENST00000673673.2:c.143A>C	ENSP00000500979.2:p.Gln48Pro
ENST00000231790.8:c.143A>C MANE Select	ENSP00000231790.3:p.Gln48Pro
ENST00000413212.2:c.-581A>C	ENSP00000400844.2:n.-581A>C
ENST00000432299.6:c.*223A>C	ENSP00000416783.1:n.*223A>C
ENST00000441265.6:c.-581A>C	ENSP00000398392.2:n.-581A>C
ENST00000442249.6:n.158A>C
ENST00000447829.6:c.-147A>C	ENSP00000399329.2:n.-147A>C
ENST00000476172.6:n.1120-1325A>C
ENST00000539477.6:c.-489A>C	ENSP00000443665.1:n.-489A>C
ENST00000673673.1:c.96A>C
ENST00000673686.1:n.133A>C
ENST00000673713.1:n.174A>C
ENST00000673715.1:c.143A>C	ENSP00000501301.1:p.Gln48Pro
ENST00000673897.1:c.116+2982A>C	ENSP00000501109.1:n.116+2982A>C
ENST00000673899.1:c.143A>C	ENSP00000501030.1:p.Gln48Pro
ENST00000673947.1:c.*283A>C	ENSP00000501304.1:n.*283A>C
ENST00000673972.1:c.*21A>C	ENSP00000501281.1:n.*21A>C
ENST00000673990.1:n.128A>C
ENST00000674019.1:c.-581A>C	ENSP00000501081.1:n.-581A>C
ENST00000674107.1:n.85A>C
ENST00000674111.1:c.143A>C	ENSP00000501162.1:p.Gln48Pro
ENST00000231790.6:c.143A>C	ENSP00000231790.2:p.Gln48Pro
ENST00000429117.5:c.-147A>C	ENSP00000407019.1:n.-147A>C
ENST00000432299.5:c.*223A>C	ENSP00000416783.1:n.*223A>C
ENST00000435176.5:c.-147A>C	ENSP00000402564.1:n.-147A>C
ENST00000441265.5:c.-489A>C	ENSP00000398392.1:n.-489A>C
ENST00000442249.5:c.116+2982A>C	ENSP00000387511.1:n.116+2982A>C
ENST00000454028.5:c.*21A>C	ENSP00000392649.1:n.*21A>C
ENST00000455445.6:c.-581A>C	ENSP00000398272.2:n.-581A>C
ENST00000456676.6:c.118A>C
ENST00000457004.5:c.*21A>C	ENSP00000407773.1:n.*21A>C
ENST00000458205.6:c.-726A>C	ENSP00000402667.2:n.-726A>C
ENST00000466900.5:n.70A>C
ENST00000476172.5:n.265A>C
ENST00000485889.1:n.147A>C
ENST00000492474.5:n.166A>C
ENST00000536378.5:c.-517+2982A>C	ENSP00000444286.2:n.-517+2982A>C
ENST00000539477.5:c.-489A>C	ENSP00000443665.1:n.-489A>C
NM_000249.3:c.143A>C , LRG_216t1:c.143A>C	NP_000240.1:p.Gln48Pro
NM_001167617.1:c.-147A>C	NP_001161089.1:n.-147A>C
NM_001167618.1:c.-581A>C	NP_001161090.1:n.-581A>C
NM_001167619.1:c.-489A>C	NP_001161091.1:n.-489A>C
NM_001258271.1:c.143A>C	NP_001245200.1:p.Gln48Pro
NM_001258273.1:c.-517+2982A>C	NP_001245202.1:n.-517+2982A>C
NM_001258274.1:c.-726A>C	NP_001245203.1:n.-726A>C
XM_005265161.1:c.143A>C	XP_005265218.1:p.Gln48Pro
XM_005265163.1:c.-581A>C	XP_005265220.1:n.-581A>C
XM_005265164.1:c.-581A>C	XP_005265221.1:n.-581A>C
XM_005265166.1:c.-787A>C	XP_005265223.1:n.-787A>C
XM_011533727.1:c.-684A>C	XP_011532029.1:n.-684A>C
NM_001167617.2:c.-147A>C	NP_001161089.1:n.-147A>C
NM_001167618.2:c.-581A>C	NP_001161090.1:n.-581A>C
NM_001167619.2:c.-489A>C	NP_001161091.1:n.-489A>C
NM_001258274.2:c.-726A>C	NP_001245203.1:n.-726A>C
NM_001354615.1:c.-484A>C	NP_001341544.1:n.-484A>C
NM_001354616.1:c.-489A>C	NP_001341545.1:n.-489A>C
NM_001354617.1:c.-581A>C	NP_001341546.1:n.-581A>C
NM_001354618.1:c.-581A>C	NP_001341547.1:n.-581A>C
NM_001354619.1:c.-581A>C	NP_001341548.1:n.-581A>C
NM_001354620.1:c.-147A>C	NP_001341549.1:n.-147A>C
NM_001354621.1:c.-674A>C	NP_001341550.1:n.-674A>C
NM_001354622.1:c.-787A>C	NP_001341551.1:n.-787A>C
NM_001354623.1:c.-723+2755A>C	NP_001341552.1:n.-723+2755A>C
NM_001354624.1:c.-684A>C	NP_001341553.1:n.-684A>C
NM_001354625.1:c.-587A>C	NP_001341554.1:n.-587A>C
NM_001354626.1:c.-684A>C	NP_001341555.1:n.-684A>C
NM_001354627.1:c.-684A>C	NP_001341556.1:n.-684A>C
NM_001354628.1:c.143A>C	NP_001341557.1:p.Gln48Pro
NM_001354629.1:c.143A>C	NP_001341558.1:p.Gln48Pro
NM_001354630.1:c.143A>C	NP_001341559.1:p.Gln48Pro
XM_005265161.2:c.143A>C	XP_005265218.1:p.Gln48Pro
XM_017006450.2:c.-674A>C	XP_016861939.1:n.-674A>C
NM_000249.4:c.143A>C MANE Select	NP_000240.1:p.Gln48Pro
NM_001167617.3:c.-147A>C	NP_001161089.1:n.-147A>C
NM_001167618.3:c.-581A>C	NP_001161090.1:n.-581A>C
NM_001167619.3:c.-489A>C	NP_001161091.1:n.-489A>C
NM_001258271.2:c.143A>C	NP_001245200.1:p.Gln48Pro
NM_001258273.2:c.-517+2982A>C	NP_001245202.1:n.-517+2982A>C
NM_001258274.3:c.-726A>C	NP_001245203.1:n.-726A>C
NM_001354615.2:c.-484A>C	NP_001341544.1:n.-484A>C
NM_001354616.2:c.-489A>C	NP_001341545.1:n.-489A>C
NM_001354617.2:c.-581A>C	NP_001341546.1:n.-581A>C
NM_001354618.2:c.-581A>C	NP_001341547.1:n.-581A>C
NM_001354619.2:c.-581A>C	NP_001341548.1:n.-581A>C
NM_001354620.2:c.-147A>C	NP_001341549.1:n.-147A>C
NM_001354621.2:c.-674A>C	NP_001341550.1:n.-674A>C
NM_001354622.2:c.-787A>C	NP_001341551.1:n.-787A>C
NM_001354623.2:c.-723+2755A>C	NP_001341552.1:n.-723+2755A>C
NM_001354624.2:c.-684A>C	NP_001341553.1:n.-684A>C
NM_001354625.2:c.-587A>C	NP_001341554.1:n.-587A>C
NM_001354626.2:c.-684A>C	NP_001341555.1:n.-684A>C
NM_001354627.2:c.-684A>C	NP_001341556.1:n.-684A>C
NM_001354628.2:c.143A>C	NP_001341557.1:p.Gln48Pro
NM_001354629.2:c.143A>C	NP_001341558.1:p.Gln48Pro
NM_001354630.2:c.143A>C	NP_001341559.1:p.Gln48Pro