Canonical Allele Identifier: CA035534

Gene: MLH1

Linked Data

• ClinVar Variation Id: 656950
• ClinVar RCV Id: RCV000813476 ; RCV002272367 ; RCV003467467
• dbSNP Id: rs755678310
• ExAC: 3:37048487 G / A
• gnomAD v2: 3-37048487-G-A
• gnomAD v4: 3-37006996-G-A
• MyVariant Identifiers: chr3:g.37048487G>A (hg19) ; chr3:g.37006996G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.37006996G>A , CM000665.2:g.37006996G>A	GRCh38
NC_000003.11:g.37048487G>A , CM000665.1:g.37048487G>A	GRCh37
NC_000003.10:g.37023491G>A	NCBI36
NG_007109.2:g.18647G>A , LRG_216:g.18647G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.386G>A	ENSP00000416476.2:p.Ser129Asn
ENST00000429117.6:c.92G>A	ENSP00000407019.2:p.Ser31Asn
ENST00000450420.6:c.386G>A	ENSP00000393006.2:p.Ser129Asn
ENST00000456676.7:c.386G>A	ENSP00000416687.3:p.Ser129Asn
ENST00000458009.6:c.386G>A	ENSP00000411066.2:p.Ser129Asn
ENST00000492474.6:c.-338G>A	ENSP00000518393.1:n.-338G>A
ENST00000616768.6:c.386G>A	ENSP00000480669.3:p.Ser129Asn
ENST00000673673.2:c.386G>A	ENSP00000500979.2:p.Ser129Asn
ENST00000231790.8:c.386G>A MANE Select	ENSP00000231790.3:p.Ser129Asn
ENST00000413212.2:c.-338G>A	ENSP00000400844.2:n.-338G>A
ENST00000432299.6:c.*466G>A	ENSP00000416783.1:n.*466G>A
ENST00000441265.6:c.-338G>A	ENSP00000398392.2:n.-338G>A
ENST00000442249.6:n.401G>A
ENST00000447829.6:c.23G>A	ENSP00000399329.2:p.Ser8Asn
ENST00000539477.6:c.-246G>A	ENSP00000443665.1:n.-246G>A
ENST00000673673.1:c.339G>A
ENST00000673713.1:n.417G>A
ENST00000673715.1:c.386G>A	ENSP00000501301.1:p.Ser129Asn
ENST00000673897.1:c.*178G>A	ENSP00000501109.1:n.*178G>A
ENST00000673899.1:c.386G>A	ENSP00000501030.1:p.Ser129Asn
ENST00000673947.1:c.*526G>A	ENSP00000501304.1:n.*526G>A
ENST00000673972.1:c.*264G>A	ENSP00000501281.1:n.*264G>A
ENST00000673990.1:n.371G>A
ENST00000674019.1:c.-338G>A	ENSP00000501081.1:n.-338G>A
ENST00000674107.1:n.328G>A
ENST00000674111.1:c.386G>A	ENSP00000501162.1:p.Ser129Asn
ENST00000231790.6:c.386G>A	ENSP00000231790.2:p.Ser129Asn
ENST00000429117.5:c.92G>A	ENSP00000407019.1:p.Ser31Asn
ENST00000432299.5:c.*466G>A	ENSP00000416783.1:n.*466G>A
ENST00000435176.5:c.92G>A	ENSP00000402564.1:p.Ser31Asn
ENST00000441265.5:c.-246G>A	ENSP00000398392.1:n.-246G>A
ENST00000442249.5:c.*178G>A	ENSP00000387511.1:n.*178G>A
ENST00000454028.5:c.*259G>A	ENSP00000392649.1:n.*259G>A
ENST00000455445.6:c.-338G>A	ENSP00000398272.2:n.-338G>A
ENST00000456676.6:c.361G>A
ENST00000457004.5:c.*165G>A	ENSP00000407773.1:n.*165G>A
ENST00000458205.6:c.-338G>A	ENSP00000402667.2:n.-338G>A
ENST00000466900.5:n.419G>A
ENST00000485889.1:n.390G>A
ENST00000492474.5:n.409G>A
ENST00000536378.5:c.-338G>A	ENSP00000444286.2:n.-338G>A
ENST00000539477.5:c.-246G>A	ENSP00000443665.1:n.-246G>A
NM_000249.3:c.386G>A , LRG_216t1:c.386G>A	NP_000240.1:p.Ser129Asn
NM_001167617.1:c.92G>A	NP_001161089.1:p.Ser31Asn
NM_001167618.1:c.-338G>A	NP_001161090.1:n.-338G>A
NM_001167619.1:c.-246G>A	NP_001161091.1:n.-246G>A
NM_001258271.1:c.386G>A	NP_001245200.1:p.Ser129Asn
NM_001258273.1:c.-338G>A	NP_001245202.1:n.-338G>A
NM_001258274.1:c.-338G>A	NP_001245203.1:n.-338G>A
XM_005265161.1:c.386G>A	XP_005265218.1:p.Ser129Asn
XM_005265163.1:c.-338G>A	XP_005265220.1:n.-338G>A
XM_005265164.1:c.-338G>A	XP_005265221.1:n.-338G>A
XM_005265166.1:c.-544G>A	XP_005265223.1:n.-544G>A
XM_011533727.1:c.-441G>A	XP_011532029.1:n.-441G>A
NM_001167617.2:c.92G>A	NP_001161089.1:p.Ser31Asn
NM_001167618.2:c.-338G>A	NP_001161090.1:n.-338G>A
NM_001167619.2:c.-246G>A	NP_001161091.1:n.-246G>A
NM_001258274.2:c.-338G>A	NP_001245203.1:n.-338G>A
NM_001354615.1:c.-246G>A	NP_001341544.1:n.-246G>A
NM_001354616.1:c.-246G>A	NP_001341545.1:n.-246G>A
NM_001354617.1:c.-338G>A	NP_001341546.1:n.-338G>A
NM_001354618.1:c.-338G>A	NP_001341547.1:n.-338G>A
NM_001354619.1:c.-338G>A	NP_001341548.1:n.-338G>A
NM_001354620.1:c.92G>A	NP_001341549.1:p.Ser31Asn
NM_001354621.1:c.-431G>A	NP_001341550.1:n.-431G>A
NM_001354622.1:c.-544G>A	NP_001341551.1:n.-544G>A
NM_001354623.1:c.-544G>A	NP_001341552.1:n.-544G>A
NM_001354624.1:c.-441G>A	NP_001341553.1:n.-441G>A
NM_001354625.1:c.-349G>A	NP_001341554.1:n.-349G>A
NM_001354626.1:c.-441G>A	NP_001341555.1:n.-441G>A
NM_001354627.1:c.-441G>A	NP_001341556.1:n.-441G>A
NM_001354628.1:c.386G>A	NP_001341557.1:p.Ser129Asn
NM_001354629.1:c.287G>A	NP_001341558.1:p.Ser96Asn
NM_001354630.1:c.386G>A	NP_001341559.1:p.Ser129Asn
XM_005265161.2:c.386G>A	XP_005265218.1:p.Ser129Asn
XM_017006450.2:c.-431G>A	XP_016861939.1:n.-431G>A
NM_000249.4:c.386G>A MANE Select	NP_000240.1:p.Ser129Asn
NM_001167617.3:c.92G>A	NP_001161089.1:p.Ser31Asn
NM_001167618.3:c.-338G>A	NP_001161090.1:n.-338G>A
NM_001167619.3:c.-246G>A	NP_001161091.1:n.-246G>A
NM_001258271.2:c.386G>A	NP_001245200.1:p.Ser129Asn
NM_001258273.2:c.-338G>A	NP_001245202.1:n.-338G>A
NM_001258274.3:c.-338G>A	NP_001245203.1:n.-338G>A
NM_001354615.2:c.-246G>A	NP_001341544.1:n.-246G>A
NM_001354616.2:c.-246G>A	NP_001341545.1:n.-246G>A
NM_001354617.2:c.-338G>A	NP_001341546.1:n.-338G>A
NM_001354618.2:c.-338G>A	NP_001341547.1:n.-338G>A
NM_001354619.2:c.-338G>A	NP_001341548.1:n.-338G>A
NM_001354620.2:c.92G>A	NP_001341549.1:p.Ser31Asn
NM_001354621.2:c.-431G>A	NP_001341550.1:n.-431G>A
NM_001354622.2:c.-544G>A	NP_001341551.1:n.-544G>A
NM_001354623.2:c.-544G>A	NP_001341552.1:n.-544G>A
NM_001354624.2:c.-441G>A	NP_001341553.1:n.-441G>A
NM_001354625.2:c.-349G>A	NP_001341554.1:n.-349G>A
NM_001354626.2:c.-441G>A	NP_001341555.1:n.-441G>A
NM_001354627.2:c.-441G>A	NP_001341556.1:n.-441G>A
NM_001354628.2:c.386G>A	NP_001341557.1:p.Ser129Asn
NM_001354629.2:c.287G>A	NP_001341558.1:p.Ser96Asn
NM_001354630.2:c.386G>A	NP_001341559.1:p.Ser129Asn