Canonical Allele Identifier: CA004445

Gene: MLH1

Linked Data

• ClinVar Variation Id: 89648
• ClinVar RCV Id: RCV000075118 ; RCV000688444
• dbSNP Id: rs587778888
• MyVariant Identifiers: chr3:g.37035151A>G (hg19) ; chr3:g.36993660A>G (hg38)
• PubMed: PMID:15713769 ; PMID:19267393 ; PMID:22949379

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36993660A>G , CM000665.2:g.36993660A>G	GRCh38
NC_000003.11:g.37035151A>G , CM000665.1:g.37035151A>G	GRCh37
NC_000003.10:g.37010155A>G	NCBI36
NG_007109.2:g.5311A>G , LRG_216:g.5311A>G
NG_008418.1:g.4645T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.113A>G	ENSP00000416476.2:p.Asn38Ser
ENST00000450420.6:c.113A>G	ENSP00000393006.2:p.Asn38Ser
ENST00000456676.7:c.113A>G	ENSP00000416687.3:p.Asn38Ser
ENST00000458009.6:c.113A>G	ENSP00000411066.2:p.Asn38Ser
ENST00000616768.6:c.113A>G	ENSP00000480669.3:p.Asn38Ser
ENST00000673673.2:c.113A>G	ENSP00000500979.2:p.Asn38Ser
ENST00000231790.8:c.113A>G MANE Select	ENSP00000231790.3:p.Asn38Ser
ENST00000432299.6:c.113A>G	ENSP00000416783.1:p.Asn38Ser
ENST00000442249.6:n.128A>G
ENST00000673673.1:c.66A>G
ENST00000673713.1:n.144A>G
ENST00000673715.1:c.113A>G	ENSP00000501301.1:p.Asn38Ser
ENST00000673897.1:c.113A>G	ENSP00000501109.1:p.Asn38Ser
ENST00000673899.1:c.113A>G	ENSP00000501030.1:p.Asn38Ser
ENST00000673947.1:c.113A>G	ENSP00000501304.1:p.Asn38Ser
ENST00000673972.1:c.113A>G	ENSP00000501281.1:p.Asn38Ser
ENST00000674111.1:c.113A>G	ENSP00000501162.1:p.Asn38Ser
ENST00000231790.6:c.113A>G	ENSP00000231790.2:p.Asn38Ser
ENST00000432299.5:c.113A>G	ENSP00000416783.1:p.Asn38Ser
ENST00000442249.5:c.113A>G	ENSP00000387511.1:p.Asn38Ser
ENST00000454028.5:c.113A>G	ENSP00000392649.1:p.Asn38Ser
ENST00000456676.6:c.88A>G
ENST00000457004.5:c.113A>G	ENSP00000407773.1:p.Asn38Ser
ENST00000536378.5:c.-520A>G	ENSP00000444286.2:n.-520A>G
NM_000249.3:c.113A>G , LRG_216t1:c.113A>G	NP_000240.1:p.Asn38Ser
NM_001258271.1:c.113A>G	NP_001245200.1:p.Asn38Ser
NM_001258273.1:c.-520A>G	NP_001245202.1:n.-520A>G
XM_005265161.1:c.113A>G	XP_005265218.1:p.Asn38Ser
XM_005265164.1:c.-606A>G	XP_005265221.1:n.-606A>G
NM_001167617.2:c.-404A>G	NP_001161089.1:n.-404A>G
NM_001167618.2:c.-833A>G	NP_001161090.1:n.-833A>G
NM_001167619.2:c.-746A>G	NP_001161091.1:n.-746A>G
NM_001258274.2:c.-983A>G	NP_001245203.1:n.-983A>G
NM_001354615.1:c.-514A>G	NP_001341544.1:n.-514A>G
NM_001354616.1:c.-514A>G	NP_001341545.1:n.-514A>G
NM_001354617.1:c.-606A>G	NP_001341546.1:n.-606A>G
NM_001354618.1:c.-838A>G	NP_001341547.1:n.-838A>G
NM_001354619.1:c.-962A>G	NP_001341548.1:n.-962A>G
NM_001354620.1:c.-172A>G	NP_001341549.1:n.-172A>G
NM_001354621.1:c.-931A>G	NP_001341550.1:n.-931A>G
NM_001354622.1:c.-1044A>G	NP_001341551.1:n.-1044A>G
NM_001354623.1:c.-953A>G	NP_001341552.1:n.-953A>G
NM_001354624.1:c.-714A>G	NP_001341553.1:n.-714A>G
NM_001354625.1:c.-612A>G	NP_001341554.1:n.-612A>G
NM_001354626.1:c.-709A>G	NP_001341555.1:n.-709A>G
NM_001354627.1:c.-941A>G	NP_001341556.1:n.-941A>G
NM_001354628.1:c.113A>G	NP_001341557.1:p.Asn38Ser
NM_001354629.1:c.113A>G	NP_001341558.1:p.Asn38Ser
NM_001354630.1:c.113A>G	NP_001341559.1:p.Asn38Ser
XM_005265161.2:c.113A>G	XP_005265218.1:p.Asn38Ser
XM_017006450.2:c.-699A>G	XP_016861939.1:n.-699A>G
NM_000249.4:c.113A>G MANE Select	NP_000240.1:p.Asn38Ser
NM_001167617.3:c.-404A>G	NP_001161089.1:n.-404A>G
NM_001167618.3:c.-833A>G	NP_001161090.1:n.-833A>G
NM_001167619.3:c.-746A>G	NP_001161091.1:n.-746A>G
NM_001258271.2:c.113A>G	NP_001245200.1:p.Asn38Ser
NM_001258273.2:c.-520A>G	NP_001245202.1:n.-520A>G
NM_001258274.3:c.-983A>G	NP_001245203.1:n.-983A>G
NM_001354615.2:c.-514A>G	NP_001341544.1:n.-514A>G
NM_001354616.2:c.-514A>G	NP_001341545.1:n.-514A>G
NM_001354617.2:c.-606A>G	NP_001341546.1:n.-606A>G
NM_001354618.2:c.-838A>G	NP_001341547.1:n.-838A>G
NM_001354619.2:c.-962A>G	NP_001341548.1:n.-962A>G
NM_001354620.2:c.-172A>G	NP_001341549.1:n.-172A>G
NM_001354621.2:c.-931A>G	NP_001341550.1:n.-931A>G
NM_001354622.2:c.-1044A>G	NP_001341551.1:n.-1044A>G
NM_001354623.2:c.-953A>G	NP_001341552.1:n.-953A>G
NM_001354624.2:c.-714A>G	NP_001341553.1:n.-714A>G
NM_001354625.2:c.-612A>G	NP_001341554.1:n.-612A>G
NM_001354626.2:c.-709A>G	NP_001341555.1:n.-709A>G
NM_001354627.2:c.-941A>G	NP_001341556.1:n.-941A>G
NM_001354628.2:c.113A>G	NP_001341557.1:p.Asn38Ser
NM_001354629.2:c.113A>G	NP_001341558.1:p.Asn38Ser
NM_001354630.2:c.113A>G	NP_001341559.1:p.Asn38Ser