Canonical Allele Identifier: CA352059811

Gene: MLH1

Linked Data

• ClinVar Variation Id: 864552
• ClinVar RCV Id: RCV001071771 ; RCV001093665
• dbSNP Id: rs1448308275
• gnomAD v2: 3-37035042-T-G
• gnomAD v3: 3-36993551-T-G
• gnomAD v4: 3-36993551-T-G
• MyVariant Identifiers: chr3:g.37035042T>G (hg19) ; chr3:g.36993551T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36993551T>G , CM000665.2:g.36993551T>G	GRCh38
NC_000003.11:g.37035042T>G , CM000665.1:g.37035042T>G	GRCh37
NC_000003.10:g.37010046T>G	NCBI36
NG_007109.2:g.5202T>G , LRG_216:g.5202T>G
NG_008418.1:g.4754A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000413740.2:c.4T>G	ENSP00000416476.2:p.Ser2Ala
ENST00000450420.6:c.4T>G	ENSP00000393006.2:p.Ser2Ala
ENST00000456676.7:c.4T>G	ENSP00000416687.3:p.Ser2Ala
ENST00000458009.6:c.4T>G	ENSP00000411066.2:p.Ser2Ala
ENST00000616768.6:c.4T>G	ENSP00000480669.3:p.Ser2Ala
ENST00000673673.2:c.4T>G	ENSP00000500979.2:p.Ser2Ala
ENST00000231790.8:c.4T>G MANE Select	ENSP00000231790.3:p.Ser2Ala
ENST00000432299.6:c.4T>G	ENSP00000416783.1:p.Ser2Ala
ENST00000442249.6:n.19T>G
ENST00000673713.1:n.35T>G
ENST00000673715.1:c.4T>G	ENSP00000501301.1:p.Ser2Ala
ENST00000673897.1:c.4T>G	ENSP00000501109.1:p.Ser2Ala
ENST00000673899.1:c.4T>G	ENSP00000501030.1:p.Ser2Ala
ENST00000673947.1:c.4T>G	ENSP00000501304.1:p.Ser2Ala
ENST00000673972.1:c.4T>G	ENSP00000501281.1:p.Ser2Ala
ENST00000674111.1:c.4T>G	ENSP00000501162.1:p.Ser2Ala
ENST00000231790.6:c.4T>G	ENSP00000231790.2:p.Ser2Ala
ENST00000432299.5:c.4T>G	ENSP00000416783.1:p.Ser2Ala
ENST00000442249.5:c.4T>G	ENSP00000387511.1:p.Ser2Ala
ENST00000454028.5:c.4T>G	ENSP00000392649.1:p.Ser2Ala
ENST00000457004.5:c.4T>G	ENSP00000407773.1:p.Ser2Ala
ENST00000536378.5:c.-629T>G	ENSP00000444286.2:n.-629T>G
NM_000249.3:c.4T>G , LRG_216t1:c.4T>G	NP_000240.1:p.Ser2Ala
NM_001258271.1:c.4T>G	NP_001245200.1:p.Ser2Ala
NM_001258273.1:c.-629T>G	NP_001245202.1:n.-629T>G
XM_005265161.1:c.4T>G	XP_005265218.1:p.Ser2Ala
XM_005265164.1:c.-715T>G	XP_005265221.1:n.-715T>G
NM_001167617.2:c.-513T>G	NP_001161089.1:n.-513T>G
NM_001167618.2:c.-942T>G	NP_001161090.1:n.-942T>G
NM_001167619.2:c.-855T>G	NP_001161091.1:n.-855T>G
NM_001258274.2:c.-1092T>G	NP_001245203.1:n.-1092T>G
NM_001354615.1:c.-623T>G	NP_001341544.1:n.-623T>G
NM_001354616.1:c.-623T>G	NP_001341545.1:n.-623T>G
NM_001354617.1:c.-715T>G	NP_001341546.1:n.-715T>G
NM_001354618.1:c.-947T>G	NP_001341547.1:n.-947T>G
NM_001354619.1:c.-1071T>G	NP_001341548.1:n.-1071T>G
NM_001354620.1:c.-281T>G	NP_001341549.1:n.-281T>G
NM_001354621.1:c.-1040T>G	NP_001341550.1:n.-1040T>G
NM_001354622.1:c.-1153T>G	NP_001341551.1:n.-1153T>G
NM_001354623.1:c.-1062T>G	NP_001341552.1:n.-1062T>G
NM_001354624.1:c.-823T>G	NP_001341553.1:n.-823T>G
NM_001354625.1:c.-721T>G	NP_001341554.1:n.-721T>G
NM_001354626.1:c.-818T>G	NP_001341555.1:n.-818T>G
NM_001354627.1:c.-1050T>G	NP_001341556.1:n.-1050T>G
NM_001354628.1:c.4T>G	NP_001341557.1:p.Ser2Ala
NM_001354629.1:c.4T>G	NP_001341558.1:p.Ser2Ala
NM_001354630.1:c.4T>G	NP_001341559.1:p.Ser2Ala
XM_005265161.2:c.4T>G	XP_005265218.1:p.Ser2Ala
XM_017006450.2:c.-808T>G	XP_016861939.1:n.-808T>G
NM_000249.4:c.4T>G MANE Select	NP_000240.1:p.Ser2Ala
NM_001167617.3:c.-513T>G	NP_001161089.1:n.-513T>G
NM_001167618.3:c.-942T>G	NP_001161090.1:n.-942T>G
NM_001167619.3:c.-855T>G	NP_001161091.1:n.-855T>G
NM_001258271.2:c.4T>G	NP_001245200.1:p.Ser2Ala
NM_001258273.2:c.-629T>G	NP_001245202.1:n.-629T>G
NM_001258274.3:c.-1092T>G	NP_001245203.1:n.-1092T>G
NM_001354615.2:c.-623T>G	NP_001341544.1:n.-623T>G
NM_001354616.2:c.-623T>G	NP_001341545.1:n.-623T>G
NM_001354617.2:c.-715T>G	NP_001341546.1:n.-715T>G
NM_001354618.2:c.-947T>G	NP_001341547.1:n.-947T>G
NM_001354619.2:c.-1071T>G	NP_001341548.1:n.-1071T>G
NM_001354620.2:c.-281T>G	NP_001341549.1:n.-281T>G
NM_001354621.2:c.-1040T>G	NP_001341550.1:n.-1040T>G
NM_001354622.2:c.-1153T>G	NP_001341551.1:n.-1153T>G
NM_001354623.2:c.-1062T>G	NP_001341552.1:n.-1062T>G
NM_001354624.2:c.-823T>G	NP_001341553.1:n.-823T>G
NM_001354625.2:c.-721T>G	NP_001341554.1:n.-721T>G
NM_001354626.2:c.-818T>G	NP_001341555.1:n.-818T>G
NM_001354627.2:c.-1050T>G	NP_001341556.1:n.-1050T>G
NM_001354628.2:c.4T>G	NP_001341557.1:p.Ser2Ala
NM_001354629.2:c.4T>G	NP_001341558.1:p.Ser2Ala
NM_001354630.2:c.4T>G	NP_001341559.1:p.Ser2Ala