Canonical Allele Identifier: CA004200

Gene: MLH1

Linked Data

• ClinVar Variation Id: 89631
• ClinVar RCV Id: RCV000075100 ; RCV001269567 ; RCV001353714 ; RCV002399429 ; RCV003451002
• dbSNP Id: rs63749906
• MyVariant Identifiers: chr3:g.37035142T>G (hg19) ; chr3:g.36993651T>G (hg38)
• PubMed: PMID:8521398 ; PMID:10082584 ; PMID:12810663 ; PMID:15731775 ; PMID:16995940 ; PMID:17192056 ; PMID:17312306 ; PMID:17440981 ; PMID:17510385

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36993651T>G , CM000665.2:g.36993651T>G	GRCh38
NC_000003.11:g.37035142T>G , CM000665.1:g.37035142T>G	GRCh37
NC_000003.10:g.37010146T>G	NCBI36
NG_007109.2:g.5302T>G , LRG_216:g.5302T>G
NG_008418.1:g.4654A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.104T>G	ENSP00000416476.2:p.Met35Arg
ENST00000450420.6:c.104T>G	ENSP00000393006.2:p.Met35Arg
ENST00000456676.7:c.104T>G	ENSP00000416687.3:p.Met35Arg
ENST00000458009.6:c.104T>G	ENSP00000411066.2:p.Met35Arg
ENST00000616768.6:c.104T>G	ENSP00000480669.3:p.Met35Arg
ENST00000673673.2:c.104T>G	ENSP00000500979.2:p.Met35Arg
ENST00000231790.8:c.104T>G MANE Select	ENSP00000231790.3:p.Met35Arg
ENST00000432299.6:c.104T>G	ENSP00000416783.1:p.Met35Arg
ENST00000442249.6:n.119T>G
ENST00000673673.1:c.57T>G
ENST00000673713.1:n.135T>G
ENST00000673715.1:c.104T>G	ENSP00000501301.1:p.Met35Arg
ENST00000673897.1:c.104T>G	ENSP00000501109.1:p.Met35Arg
ENST00000673899.1:c.104T>G	ENSP00000501030.1:p.Met35Arg
ENST00000673947.1:c.104T>G	ENSP00000501304.1:p.Met35Arg
ENST00000673972.1:c.104T>G	ENSP00000501281.1:p.Met35Arg
ENST00000674111.1:c.104T>G	ENSP00000501162.1:p.Met35Arg
ENST00000231790.6:c.104T>G	ENSP00000231790.2:p.Met35Arg
ENST00000432299.5:c.104T>G	ENSP00000416783.1:p.Met35Arg
ENST00000442249.5:c.104T>G	ENSP00000387511.1:p.Met35Arg
ENST00000454028.5:c.104T>G	ENSP00000392649.1:p.Met35Arg
ENST00000456676.6:c.79T>G
ENST00000457004.5:c.104T>G	ENSP00000407773.1:p.Met35Arg
ENST00000536378.5:c.-529T>G	ENSP00000444286.2:n.-529T>G
NM_000249.3:c.104T>G , LRG_216t1:c.104T>G	NP_000240.1:p.Met35Arg
NM_001258271.1:c.104T>G	NP_001245200.1:p.Met35Arg
NM_001258273.1:c.-529T>G	NP_001245202.1:n.-529T>G
XM_005265161.1:c.104T>G	XP_005265218.1:p.Met35Arg
XM_005265164.1:c.-615T>G	XP_005265221.1:n.-615T>G
NM_001167617.2:c.-413T>G	NP_001161089.1:n.-413T>G
NM_001167618.2:c.-842T>G	NP_001161090.1:n.-842T>G
NM_001167619.2:c.-755T>G	NP_001161091.1:n.-755T>G
NM_001258274.2:c.-992T>G	NP_001245203.1:n.-992T>G
NM_001354615.1:c.-523T>G	NP_001341544.1:n.-523T>G
NM_001354616.1:c.-523T>G	NP_001341545.1:n.-523T>G
NM_001354617.1:c.-615T>G	NP_001341546.1:n.-615T>G
NM_001354618.1:c.-847T>G	NP_001341547.1:n.-847T>G
NM_001354619.1:c.-971T>G	NP_001341548.1:n.-971T>G
NM_001354620.1:c.-181T>G	NP_001341549.1:n.-181T>G
NM_001354621.1:c.-940T>G	NP_001341550.1:n.-940T>G
NM_001354622.1:c.-1053T>G	NP_001341551.1:n.-1053T>G
NM_001354623.1:c.-962T>G	NP_001341552.1:n.-962T>G
NM_001354624.1:c.-723T>G	NP_001341553.1:n.-723T>G
NM_001354625.1:c.-621T>G	NP_001341554.1:n.-621T>G
NM_001354626.1:c.-718T>G	NP_001341555.1:n.-718T>G
NM_001354627.1:c.-950T>G	NP_001341556.1:n.-950T>G
NM_001354628.1:c.104T>G	NP_001341557.1:p.Met35Arg
NM_001354629.1:c.104T>G	NP_001341558.1:p.Met35Arg
NM_001354630.1:c.104T>G	NP_001341559.1:p.Met35Arg
XM_005265161.2:c.104T>G	XP_005265218.1:p.Met35Arg
XM_017006450.2:c.-708T>G	XP_016861939.1:n.-708T>G
NM_000249.4:c.104T>G MANE Select	NP_000240.1:p.Met35Arg
NM_001167617.3:c.-413T>G	NP_001161089.1:n.-413T>G
NM_001167618.3:c.-842T>G	NP_001161090.1:n.-842T>G
NM_001167619.3:c.-755T>G	NP_001161091.1:n.-755T>G
NM_001258271.2:c.104T>G	NP_001245200.1:p.Met35Arg
NM_001258273.2:c.-529T>G	NP_001245202.1:n.-529T>G
NM_001258274.3:c.-992T>G	NP_001245203.1:n.-992T>G
NM_001354615.2:c.-523T>G	NP_001341544.1:n.-523T>G
NM_001354616.2:c.-523T>G	NP_001341545.1:n.-523T>G
NM_001354617.2:c.-615T>G	NP_001341546.1:n.-615T>G
NM_001354618.2:c.-847T>G	NP_001341547.1:n.-847T>G
NM_001354619.2:c.-971T>G	NP_001341548.1:n.-971T>G
NM_001354620.2:c.-181T>G	NP_001341549.1:n.-181T>G
NM_001354621.2:c.-940T>G	NP_001341550.1:n.-940T>G
NM_001354622.2:c.-1053T>G	NP_001341551.1:n.-1053T>G
NM_001354623.2:c.-962T>G	NP_001341552.1:n.-962T>G
NM_001354624.2:c.-723T>G	NP_001341553.1:n.-723T>G
NM_001354625.2:c.-621T>G	NP_001341554.1:n.-621T>G
NM_001354626.2:c.-718T>G	NP_001341555.1:n.-718T>G
NM_001354627.2:c.-950T>G	NP_001341556.1:n.-950T>G
NM_001354628.2:c.104T>G	NP_001341557.1:p.Met35Arg
NM_001354629.2:c.104T>G	NP_001341558.1:p.Met35Arg
NM_001354630.2:c.104T>G	NP_001341559.1:p.Met35Arg