Canonical Allele Identifier: CA004399

Gene: MLH1

Linked Data

• ClinVar Variation Id: 89645
• ClinVar RCV Id: RCV000075115 ; RCV000129232 ; RCV001034681 ; RCV001804811 ; RCV003451006
• dbSNP Id: rs63750580
• MyVariant Identifiers: chr3:g.37035150A>C (hg19) ; chr3:g.36993659A>C (hg38)
• PubMed: PMID:12373605 ; PMID:18383312 ; PMID:18415027 ; PMID:20704743 ; PMID:22949379

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36993659A>C , CM000665.2:g.36993659A>C	GRCh38
NC_000003.11:g.37035150A>C , CM000665.1:g.37035150A>C	GRCh37
NC_000003.10:g.37010154A>C	NCBI36
NG_007109.2:g.5310A>C , LRG_216:g.5310A>C
NG_008418.1:g.4646T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.112A>C	ENSP00000416476.2:p.Asn38His
ENST00000450420.6:c.112A>C	ENSP00000393006.2:p.Asn38His
ENST00000456676.7:c.112A>C	ENSP00000416687.3:p.Asn38His
ENST00000458009.6:c.112A>C	ENSP00000411066.2:p.Asn38His
ENST00000616768.6:c.112A>C	ENSP00000480669.3:p.Asn38His
ENST00000673673.2:c.112A>C	ENSP00000500979.2:p.Asn38His
ENST00000231790.8:c.112A>C MANE Select	ENSP00000231790.3:p.Asn38His
ENST00000432299.6:c.112A>C	ENSP00000416783.1:p.Asn38His
ENST00000442249.6:n.127A>C
ENST00000673673.1:c.65A>C
ENST00000673713.1:n.143A>C
ENST00000673715.1:c.112A>C	ENSP00000501301.1:p.Asn38His
ENST00000673897.1:c.112A>C	ENSP00000501109.1:p.Asn38His
ENST00000673899.1:c.112A>C	ENSP00000501030.1:p.Asn38His
ENST00000673947.1:c.112A>C	ENSP00000501304.1:p.Asn38His
ENST00000673972.1:c.112A>C	ENSP00000501281.1:p.Asn38His
ENST00000674111.1:c.112A>C	ENSP00000501162.1:p.Asn38His
ENST00000231790.6:c.112A>C	ENSP00000231790.2:p.Asn38His
ENST00000432299.5:c.112A>C	ENSP00000416783.1:p.Asn38His
ENST00000442249.5:c.112A>C	ENSP00000387511.1:p.Asn38His
ENST00000454028.5:c.112A>C	ENSP00000392649.1:p.Asn38His
ENST00000456676.6:c.87A>C
ENST00000457004.5:c.112A>C	ENSP00000407773.1:p.Asn38His
ENST00000536378.5:c.-521A>C	ENSP00000444286.2:n.-521A>C
NM_000249.3:c.112A>C , LRG_216t1:c.112A>C	NP_000240.1:p.Asn38His
NM_001258271.1:c.112A>C	NP_001245200.1:p.Asn38His
NM_001258273.1:c.-521A>C	NP_001245202.1:n.-521A>C
XM_005265161.1:c.112A>C	XP_005265218.1:p.Asn38His
XM_005265164.1:c.-607A>C	XP_005265221.1:n.-607A>C
NM_001167617.2:c.-405A>C	NP_001161089.1:n.-405A>C
NM_001167618.2:c.-834A>C	NP_001161090.1:n.-834A>C
NM_001167619.2:c.-747A>C	NP_001161091.1:n.-747A>C
NM_001258274.2:c.-984A>C	NP_001245203.1:n.-984A>C
NM_001354615.1:c.-515A>C	NP_001341544.1:n.-515A>C
NM_001354616.1:c.-515A>C	NP_001341545.1:n.-515A>C
NM_001354617.1:c.-607A>C	NP_001341546.1:n.-607A>C
NM_001354618.1:c.-839A>C	NP_001341547.1:n.-839A>C
NM_001354619.1:c.-963A>C	NP_001341548.1:n.-963A>C
NM_001354620.1:c.-173A>C	NP_001341549.1:n.-173A>C
NM_001354621.1:c.-932A>C	NP_001341550.1:n.-932A>C
NM_001354622.1:c.-1045A>C	NP_001341551.1:n.-1045A>C
NM_001354623.1:c.-954A>C	NP_001341552.1:n.-954A>C
NM_001354624.1:c.-715A>C	NP_001341553.1:n.-715A>C
NM_001354625.1:c.-613A>C	NP_001341554.1:n.-613A>C
NM_001354626.1:c.-710A>C	NP_001341555.1:n.-710A>C
NM_001354627.1:c.-942A>C	NP_001341556.1:n.-942A>C
NM_001354628.1:c.112A>C	NP_001341557.1:p.Asn38His
NM_001354629.1:c.112A>C	NP_001341558.1:p.Asn38His
NM_001354630.1:c.112A>C	NP_001341559.1:p.Asn38His
XM_005265161.2:c.112A>C	XP_005265218.1:p.Asn38His
XM_017006450.2:c.-700A>C	XP_016861939.1:n.-700A>C
NM_000249.4:c.112A>C MANE Select	NP_000240.1:p.Asn38His
NM_001167617.3:c.-405A>C	NP_001161089.1:n.-405A>C
NM_001167618.3:c.-834A>C	NP_001161090.1:n.-834A>C
NM_001167619.3:c.-747A>C	NP_001161091.1:n.-747A>C
NM_001258271.2:c.112A>C	NP_001245200.1:p.Asn38His
NM_001258273.2:c.-521A>C	NP_001245202.1:n.-521A>C
NM_001258274.3:c.-984A>C	NP_001245203.1:n.-984A>C
NM_001354615.2:c.-515A>C	NP_001341544.1:n.-515A>C
NM_001354616.2:c.-515A>C	NP_001341545.1:n.-515A>C
NM_001354617.2:c.-607A>C	NP_001341546.1:n.-607A>C
NM_001354618.2:c.-839A>C	NP_001341547.1:n.-839A>C
NM_001354619.2:c.-963A>C	NP_001341548.1:n.-963A>C
NM_001354620.2:c.-173A>C	NP_001341549.1:n.-173A>C
NM_001354621.2:c.-932A>C	NP_001341550.1:n.-932A>C
NM_001354622.2:c.-1045A>C	NP_001341551.1:n.-1045A>C
NM_001354623.2:c.-954A>C	NP_001341552.1:n.-954A>C
NM_001354624.2:c.-715A>C	NP_001341553.1:n.-715A>C
NM_001354625.2:c.-613A>C	NP_001341554.1:n.-613A>C
NM_001354626.2:c.-710A>C	NP_001341555.1:n.-710A>C
NM_001354627.2:c.-942A>C	NP_001341556.1:n.-942A>C
NM_001354628.2:c.112A>C	NP_001341557.1:p.Asn38His
NM_001354629.2:c.112A>C	NP_001341558.1:p.Asn38His
NM_001354630.2:c.112A>C	NP_001341559.1:p.Asn38His