Canonical Allele Identifier: CA433085952

Gene: MLH1

Linked Data

• ClinVar Variation Id: 455405
• ClinVar RCV Id: RCV000534006 ; RCV000562521 ; RCV000611775
• dbSNP Id: rs1394666357
• gnomAD v2: 3-37089078-A-G
• gnomAD v4: 3-37047587-A-G
• MyVariant Identifiers: chr3:g.37089078A>G (hg19) ; chr3:g.37047587A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.37047587A>G , CM000665.2:g.37047587A>G	GRCh38
NC_000003.11:g.37089078A>G , CM000665.1:g.37089078A>G	GRCh37
NC_000003.10:g.37064082A>G	NCBI36
NG_007109.2:g.59238A>G , LRG_216:g.59238A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000413740.2:c.1668-2899A>G	ENSP00000416476.2:n.1668-2899A>G
ENST00000429117.6:c.1506A>G	ENSP00000407019.2:p.Glu502=
ENST00000450420.6:c.1559-2899A>G	ENSP00000393006.2:n.1559-2899A>G
ENST00000456676.7:c.1800A>G	ENSP00000416687.3:p.Glu600=
ENST00000492474.6:c.1077A>G	ENSP00000518393.1:p.Glu359=
ENST00000616768.6:c.1800A>G	ENSP00000480669.3:p.Glu600=
ENST00000673673.2:c.1732-930A>G	ENSP00000500979.2:n.1732-930A>G
ENST00000231790.8:c.1800A>G MANE Select	ENSP00000231790.3:p.Glu600=
ENST00000413212.2:c.*718A>G	ENSP00000400844.2:n.*718A>G
ENST00000432299.6:c.*1632A>G	ENSP00000416783.1:n.*1632A>G
ENST00000441265.6:c.*29A>G	ENSP00000398392.2:n.*29A>G
ENST00000447829.6:c.*911A>G	ENSP00000399329.2:n.*911A>G
ENST00000539477.6:c.1077A>G	ENSP00000443665.1:p.Glu359=
ENST00000616768.5:c.837A>G	ENSP00000480669.2:p.Glu279=
ENST00000673673.1:c.1685-930A>G
ENST00000673715.1:c.1800A>G	ENSP00000501301.1:p.Glu600=
ENST00000673741.1:n.834A>G
ENST00000673889.1:n.1182A>G
ENST00000673897.1:c.*1592A>G	ENSP00000501109.1:n.*1592A>G
ENST00000673899.1:c.1068A>G	ENSP00000501030.1:p.Glu356=
ENST00000673947.1:c.*1940A>G	ENSP00000501304.1:n.*1940A>G
ENST00000673972.1:c.*1678A>G	ENSP00000501281.1:n.*1678A>G
ENST00000673990.1:n.1691A>G
ENST00000674019.1:c.1077A>G	ENSP00000501081.1:p.Glu359=
ENST00000674111.1:c.*29A>G	ENSP00000501162.1:n.*29A>G
ENST00000674125.1:n.511A>G
ENST00000231790.6:c.1800A>G	ENSP00000231790.2:p.Glu600=
ENST00000413740.1:c.291-2899A>G	ENSP00000416476.1:n.291-2899A>G
ENST00000435176.5:c.1506A>G	ENSP00000402564.1:p.Glu502=
ENST00000450420.5:c.182-2899A>G	ENSP00000393006.1:n.182-2899A>G
ENST00000455445.6:c.1077A>G	ENSP00000398272.2:p.Glu359=
ENST00000456676.6:c.1775A>G
ENST00000458205.6:c.1077A>G	ENSP00000402667.2:p.Glu359=
ENST00000536378.5:c.1077A>G	ENSP00000444286.2:p.Glu359=
ENST00000539477.5:c.1077A>G	ENSP00000443665.1:p.Glu359=
ENST00000616768.4:c.568A>G
NM_000249.3:c.1800A>G , LRG_216t1:c.1800A>G	NP_000240.1:p.Glu600=
NM_001167617.1:c.1506A>G	NP_001161089.1:p.Glu502=
NM_001167618.1:c.1077A>G	NP_001161090.1:p.Glu359=
NM_001167619.1:c.1077A>G	NP_001161091.1:p.Glu359=
NM_001258271.1:c.1800A>G	NP_001245200.1:p.Glu600=
NM_001258273.1:c.1077A>G	NP_001245202.1:p.Glu359=
NM_001258274.1:c.1077A>G	NP_001245203.1:p.Glu359=
XM_005265161.1:c.1593A>G	XP_005265218.1:p.Glu531=
XM_005265163.1:c.1077A>G	XP_005265220.1:p.Glu359=
XM_005265164.1:c.1077A>G	XP_005265221.1:p.Glu359=
XM_005265166.1:c.777A>G	XP_005265223.1:p.Glu259=
XM_011533727.1:c.726A>G	XP_011532029.1:p.Glu242=
NM_001167617.2:c.1506A>G	NP_001161089.1:p.Glu502=
NM_001167618.2:c.1077A>G	NP_001161090.1:p.Glu359=
NM_001167619.2:c.1077A>G	NP_001161091.1:p.Glu359=
NM_001258274.2:c.1077A>G	NP_001245203.1:p.Glu359=
NM_001354615.1:c.1077A>G	NP_001341544.1:p.Glu359=
NM_001354616.1:c.1077A>G	NP_001341545.1:p.Glu359=
NM_001354617.1:c.1077A>G	NP_001341546.1:p.Glu359=
NM_001354618.1:c.1077A>G	NP_001341547.1:p.Glu359=
NM_001354619.1:c.1077A>G	NP_001341548.1:p.Glu359=
NM_001354620.1:c.1506A>G	NP_001341549.1:p.Glu502=
NM_001354621.1:c.777A>G	NP_001341550.1:p.Glu259=
NM_001354622.1:c.777A>G	NP_001341551.1:p.Glu259=
NM_001354623.1:c.777A>G	NP_001341552.1:p.Glu259=
NM_001354624.1:c.726A>G	NP_001341553.1:p.Glu242=
NM_001354625.1:c.726A>G	NP_001341554.1:p.Glu242=
NM_001354626.1:c.726A>G	NP_001341555.1:p.Glu242=
NM_001354627.1:c.726A>G	NP_001341556.1:p.Glu242=
NM_001354628.1:c.1800A>G	NP_001341557.1:p.Glu600=
NM_001354629.1:c.1701A>G	NP_001341558.1:p.Glu567=
NM_001354630.1:c.1732-930A>G	NP_001341559.1:n.1732-930A>G
XM_005265161.2:c.1593A>G	XP_005265218.1:p.Glu531=
XM_017006450.2:c.777A>G	XP_016861939.1:p.Glu259=
NM_000249.4:c.1800A>G MANE Select	NP_000240.1:p.Glu600=
NM_001167617.3:c.1506A>G	NP_001161089.1:p.Glu502=
NM_001167618.3:c.1077A>G	NP_001161090.1:p.Glu359=
NM_001167619.3:c.1077A>G	NP_001161091.1:p.Glu359=
NM_001258271.2:c.1800A>G	NP_001245200.1:p.Glu600=
NM_001258273.2:c.1077A>G	NP_001245202.1:p.Glu359=
NM_001258274.3:c.1077A>G	NP_001245203.1:p.Glu359=
NM_001354615.2:c.1077A>G	NP_001341544.1:p.Glu359=
NM_001354616.2:c.1077A>G	NP_001341545.1:p.Glu359=
NM_001354617.2:c.1077A>G	NP_001341546.1:p.Glu359=
NM_001354618.2:c.1077A>G	NP_001341547.1:p.Glu359=
NM_001354619.2:c.1077A>G	NP_001341548.1:p.Glu359=
NM_001354620.2:c.1506A>G	NP_001341549.1:p.Glu502=
NM_001354621.2:c.777A>G	NP_001341550.1:p.Glu259=
NM_001354622.2:c.777A>G	NP_001341551.1:p.Glu259=
NM_001354623.2:c.777A>G	NP_001341552.1:p.Glu259=
NM_001354624.2:c.726A>G	NP_001341553.1:p.Glu242=
NM_001354625.2:c.726A>G	NP_001341554.1:p.Glu242=
NM_001354626.2:c.726A>G	NP_001341555.1:p.Glu242=
NM_001354627.2:c.726A>G	NP_001341556.1:p.Glu242=
NM_001354628.2:c.1800A>G	NP_001341557.1:p.Glu600=
NM_001354629.2:c.1701A>G	NP_001341558.1:p.Glu567=
NM_001354630.2:c.1732-930A>G	NP_001341559.1:n.1732-930A>G