Canonical Allele Identifier: CA012793

Gene: MLH1

Linked Data

• ClinVar Variation Id: 90408
• ClinVar RCV Id: RCV000075901 ; RCV001046252 ; RCV001353502 ; RCV002371910
• dbSNP Id: rs63751598
• MyVariant Identifiers: chr3:g.37059089A>C (hg19) ; chr3:g.37017598A>C (hg38)
• PubMed: PMID:16451135 ; PMID:16830052 ; PMID:18618713 ; PMID:18772310

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.37017598A>C , CM000665.2:g.37017598A>C	GRCh38
NC_000003.11:g.37059089A>C , CM000665.1:g.37059089A>C	GRCh37
NC_000003.10:g.37034093A>C	NCBI36
NG_007109.2:g.29249A>C , LRG_216:g.29249A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.883A>C	ENSP00000416476.2:p.Ser295Arg
ENST00000429117.6:c.589A>C	ENSP00000407019.2:p.Ser197Arg
ENST00000450420.6:c.883A>C	ENSP00000393006.2:p.Ser295Arg
ENST00000456676.7:c.883A>C	ENSP00000416687.3:p.Ser295Arg
ENST00000458009.6:c.883A>C	ENSP00000411066.2:p.Arg295=
ENST00000492474.6:c.160A>C	ENSP00000518393.1:p.Ser54Arg
ENST00000616768.6:c.883A>C	ENSP00000480669.3:p.Ser295Arg
ENST00000673673.2:c.883A>C	ENSP00000500979.2:p.Ser295Arg
ENST00000231790.8:c.883A>C MANE Select	ENSP00000231790.3:p.Ser295Arg
ENST00000413212.2:c.67+3054A>C	ENSP00000400844.2:n.67+3054A>C
ENST00000432299.6:c.*870+3054A>C	ENSP00000416783.1:n.*870+3054A>C
ENST00000441265.6:c.160A>C	ENSP00000398392.2:p.Ser54Arg
ENST00000442249.6:n.693-2712A>C
ENST00000447829.6:c.428-2712A>C	ENSP00000399329.2:n.428-2712A>C
ENST00000539477.6:c.160A>C	ENSP00000443665.1:p.Ser54Arg
ENST00000673673.1:c.836A>C
ENST00000673713.1:n.914A>C
ENST00000673715.1:c.883A>C	ENSP00000501301.1:p.Ser295Arg
ENST00000673889.1:n.265A>C
ENST00000673897.1:c.*675A>C	ENSP00000501109.1:n.*675A>C
ENST00000673899.1:c.677+5499A>C	ENSP00000501030.1:n.677+5499A>C
ENST00000673947.1:c.*1023A>C	ENSP00000501304.1:n.*1023A>C
ENST00000673972.1:c.*761A>C	ENSP00000501281.1:n.*761A>C
ENST00000673990.1:n.776-2712A>C
ENST00000674019.1:c.160A>C	ENSP00000501081.1:p.Ser54Arg
ENST00000674107.1:n.733-2712A>C
ENST00000674111.1:c.883A>C	ENSP00000501162.1:p.Ser295Arg
ENST00000231790.6:c.883A>C	ENSP00000231790.2:p.Ser295Arg
ENST00000413212.1:c.113+3054A>C
ENST00000435176.5:c.589A>C	ENSP00000402564.1:p.Ser197Arg
ENST00000441265.5:c.160A>C	ENSP00000398392.1:p.Ser54Arg
ENST00000447829.5:c.172-2712A>C
ENST00000455445.6:c.160A>C	ENSP00000398272.2:p.Ser54Arg
ENST00000456676.6:c.858A>C
ENST00000458009.5:c.224A>C
ENST00000458205.6:c.160A>C	ENSP00000402667.2:p.Ser54Arg
ENST00000536378.5:c.160A>C	ENSP00000444286.2:p.Ser54Arg
ENST00000539477.5:c.160A>C	ENSP00000443665.1:p.Ser54Arg
NM_000249.3:c.883A>C , LRG_216t1:c.883A>C	NP_000240.1:p.Ser295Arg
NM_001167617.1:c.589A>C	NP_001161089.1:p.Ser197Arg
NM_001167618.1:c.160A>C	NP_001161090.1:p.Ser54Arg
NM_001167619.1:c.160A>C	NP_001161091.1:p.Ser54Arg
NM_001258271.1:c.883A>C	NP_001245200.1:p.Ser295Arg
NM_001258273.1:c.160A>C	NP_001245202.1:p.Ser54Arg
NM_001258274.1:c.160A>C	NP_001245203.1:p.Ser54Arg
XM_005265161.1:c.678-2712A>C	XP_005265218.1:n.678-2712A>C
XM_005265163.1:c.160A>C	XP_005265220.1:p.Ser54Arg
XM_005265164.1:c.160A>C	XP_005265221.1:p.Ser54Arg
XM_005265166.1:c.-139-2712A>C	XP_005265223.1:n.-139-2712A>C
XM_011533727.1:c.-37+3054A>C	XP_011532029.1:n.-37+3054A>C
NM_001167617.2:c.589A>C	NP_001161089.1:p.Ser197Arg
NM_001167618.2:c.160A>C	NP_001161090.1:p.Ser54Arg
NM_001167619.2:c.160A>C	NP_001161091.1:p.Ser54Arg
NM_001258274.2:c.160A>C	NP_001245203.1:p.Ser54Arg
NM_001354615.1:c.160A>C	NP_001341544.1:p.Ser54Arg
NM_001354616.1:c.160A>C	NP_001341545.1:p.Ser54Arg
NM_001354617.1:c.160A>C	NP_001341546.1:p.Ser54Arg
NM_001354618.1:c.160A>C	NP_001341547.1:p.Ser54Arg
NM_001354619.1:c.160A>C	NP_001341548.1:p.Ser54Arg
NM_001354620.1:c.589A>C	NP_001341549.1:p.Ser197Arg
NM_001354621.1:c.-139-2712A>C	NP_001341550.1:n.-139-2712A>C
NM_001354622.1:c.-139-2712A>C	NP_001341551.1:n.-139-2712A>C
NM_001354623.1:c.-139-2712A>C	NP_001341552.1:n.-139-2712A>C
NM_001354624.1:c.-37+3054A>C	NP_001341553.1:n.-37+3054A>C
NM_001354625.1:c.-37+3054A>C	NP_001341554.1:n.-37+3054A>C
NM_001354626.1:c.-37+3054A>C	NP_001341555.1:n.-37+3054A>C
NM_001354627.1:c.-37+3054A>C	NP_001341556.1:n.-37+3054A>C
NM_001354628.1:c.883A>C	NP_001341557.1:p.Ser295Arg
NM_001354629.1:c.784A>C	NP_001341558.1:p.Ser262Arg
NM_001354630.1:c.883A>C	NP_001341559.1:p.Ser295Arg
XM_005265161.2:c.678-2712A>C	XP_005265218.1:n.678-2712A>C
XM_017006450.2:c.-139-2712A>C	XP_016861939.1:n.-139-2712A>C
NM_000249.4:c.883A>C MANE Select	NP_000240.1:p.Ser295Arg
NM_001167617.3:c.589A>C	NP_001161089.1:p.Ser197Arg
NM_001167618.3:c.160A>C	NP_001161090.1:p.Ser54Arg
NM_001167619.3:c.160A>C	NP_001161091.1:p.Ser54Arg
NM_001258271.2:c.883A>C	NP_001245200.1:p.Ser295Arg
NM_001258273.2:c.160A>C	NP_001245202.1:p.Ser54Arg
NM_001258274.3:c.160A>C	NP_001245203.1:p.Ser54Arg
NM_001354615.2:c.160A>C	NP_001341544.1:p.Ser54Arg
NM_001354616.2:c.160A>C	NP_001341545.1:p.Ser54Arg
NM_001354617.2:c.160A>C	NP_001341546.1:p.Ser54Arg
NM_001354618.2:c.160A>C	NP_001341547.1:p.Ser54Arg
NM_001354619.2:c.160A>C	NP_001341548.1:p.Ser54Arg
NM_001354620.2:c.589A>C	NP_001341549.1:p.Ser197Arg
NM_001354621.2:c.-139-2712A>C	NP_001341550.1:n.-139-2712A>C
NM_001354622.2:c.-139-2712A>C	NP_001341551.1:n.-139-2712A>C
NM_001354623.2:c.-139-2712A>C	NP_001341552.1:n.-139-2712A>C
NM_001354624.2:c.-37+3054A>C	NP_001341553.1:n.-37+3054A>C
NM_001354625.2:c.-37+3054A>C	NP_001341554.1:n.-37+3054A>C
NM_001354626.2:c.-37+3054A>C	NP_001341555.1:n.-37+3054A>C
NM_001354627.2:c.-37+3054A>C	NP_001341556.1:n.-37+3054A>C
NM_001354628.2:c.883A>C	NP_001341557.1:p.Ser295Arg
NM_001354629.2:c.784A>C	NP_001341558.1:p.Ser262Arg
NM_001354630.2:c.883A>C	NP_001341559.1:p.Ser295Arg