Canonical Allele Identifier: CA008850

Gene: MLH1

Linked Data

• ClinVar Variation Id: 90068
• ClinVar RCV Id: RCV000075553 ; RCV000144606 ; RCV000165669 ; RCV001044497 ; RCV002280100 ; RCV003451110
• dbSNP Id: rs63751022
• COSMIC: COSM1215158
• MyVariant Identifiers: chr3:g.37092014G>A (hg19) ; chr3:g.37050523G>A (hg38)
• PubMed: PMID:8863153 ; PMID:8880570 ; PMID:9697702 ; PMID:9833759 ; PMID:10471527 ; PMID:11093816 ; PMID:12810663 ; PMID:17054581 ; PMID:17510385 ; PMID:17569143 ; PMID:18373977 ; PMID:21642682 ; PMID:23640085 ; PMID:27601186

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.37050523G>A , CM000665.2:g.37050523G>A	GRCh38
NC_000003.11:g.37092014G>A , CM000665.1:g.37092014G>A	GRCh37
NC_000003.10:g.37067018G>A	NCBI36
NG_007109.2:g.62174G>A , LRG_216:g.62174G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.1705G>A	ENSP00000416476.2:p.Gly569Arg
ENST00000429117.6:c.1847G>A	ENSP00000407019.2:p.Trp616Ter
ENST00000450420.6:c.*33G>A	ENSP00000393006.2:n.*33G>A
ENST00000456676.7:c.1934G>A	ENSP00000416687.3:p.Trp645Ter
ENST00000492474.6:c.1418G>A	ENSP00000518393.1:p.Trp473Ter
ENST00000616768.6:c.2048G>A	ENSP00000480669.3:p.Trp683Ter
ENST00000673673.2:c.1976G>A	ENSP00000500979.2:p.Trp659Ter
ENST00000231790.8:c.2141G>A MANE Select	ENSP00000231790.3:p.Trp714Ter
ENST00000413212.2:c.*1059G>A	ENSP00000400844.2:n.*1059G>A
ENST00000432299.6:c.*1973G>A	ENSP00000416783.1:n.*1973G>A
ENST00000447829.6:c.*1252G>A	ENSP00000399329.2:n.*1252G>A
ENST00000539477.6:c.1418G>A	ENSP00000443665.1:p.Trp473Ter
ENST00000616768.5:c.1085G>A	ENSP00000480669.2:p.Trp362Ter
ENST00000673673.1:c.1929G>A
ENST00000673741.1:n.1175G>A
ENST00000673889.1:n.1523G>A
ENST00000673897.1:c.*1933G>A	ENSP00000501109.1:n.*1933G>A
ENST00000673899.1:c.1409G>A	ENSP00000501030.1:p.Trp470Ter
ENST00000673947.1:c.*2281G>A	ENSP00000501304.1:n.*2281G>A
ENST00000673972.1:c.*2019G>A	ENSP00000501281.1:n.*2019G>A
ENST00000674019.1:c.1418G>A	ENSP00000501081.1:p.Trp473Ter
ENST00000674111.1:c.*370G>A	ENSP00000501162.1:n.*370G>A
ENST00000674125.1:n.852G>A
ENST00000231790.6:c.2141G>A	ENSP00000231790.2:p.Trp714Ter
ENST00000413740.1:c.328G>A	ENSP00000416476.1:p.Gly110Arg
ENST00000435176.5:c.1847G>A	ENSP00000402564.1:p.Trp616Ter
ENST00000450420.5:c.219G>A	ENSP00000393006.1:n.219G>A
ENST00000455445.6:c.1418G>A	ENSP00000398272.2:p.Trp473Ter
ENST00000456676.6:c.1909G>A
ENST00000458205.6:c.1418G>A	ENSP00000402667.2:p.Trp473Ter
ENST00000536378.5:c.1418G>A	ENSP00000444286.2:p.Trp473Ter
ENST00000539477.5:c.1418G>A	ENSP00000443665.1:p.Trp473Ter
NM_000249.3:c.2141G>A , LRG_216t1:c.2141G>A	NP_000240.1:p.Trp714Ter
NM_001167617.1:c.1847G>A	NP_001161089.1:p.Trp616Ter
NM_001167618.1:c.1418G>A	NP_001161090.1:p.Trp473Ter
NM_001167619.1:c.1418G>A	NP_001161091.1:p.Trp473Ter
NM_001258271.1:c.1934G>A	NP_001245200.1:p.Trp645Ter
NM_001258273.1:c.1418G>A	NP_001245202.1:p.Trp473Ter
NM_001258274.1:c.1418G>A	NP_001245203.1:p.Trp473Ter
XM_005265161.1:c.1934G>A	XP_005265218.1:p.Trp645Ter
XM_005265163.1:c.1418G>A	XP_005265220.1:p.Trp473Ter
XM_005265164.1:c.1418G>A	XP_005265221.1:p.Trp473Ter
XM_005265166.1:c.1118G>A	XP_005265223.1:p.Trp373Ter
XM_011533727.1:c.1067G>A	XP_011532029.1:p.Trp356Ter
NM_001167617.2:c.1847G>A	NP_001161089.1:p.Trp616Ter
NM_001167618.2:c.1418G>A	NP_001161090.1:p.Trp473Ter
NM_001167619.2:c.1418G>A	NP_001161091.1:p.Trp473Ter
NM_001258274.2:c.1418G>A	NP_001245203.1:p.Trp473Ter
NM_001354615.1:c.1418G>A	NP_001341544.1:p.Trp473Ter
NM_001354616.1:c.1418G>A	NP_001341545.1:p.Trp473Ter
NM_001354617.1:c.1418G>A	NP_001341546.1:p.Trp473Ter
NM_001354618.1:c.1418G>A	NP_001341547.1:p.Trp473Ter
NM_001354619.1:c.1418G>A	NP_001341548.1:p.Trp473Ter
NM_001354620.1:c.1847G>A	NP_001341549.1:p.Trp616Ter
NM_001354621.1:c.1118G>A	NP_001341550.1:p.Trp373Ter
NM_001354622.1:c.1118G>A	NP_001341551.1:p.Trp373Ter
NM_001354623.1:c.1118G>A	NP_001341552.1:p.Trp373Ter
NM_001354624.1:c.1067G>A	NP_001341553.1:p.Trp356Ter
NM_001354625.1:c.1067G>A	NP_001341554.1:p.Trp356Ter
NM_001354626.1:c.1067G>A	NP_001341555.1:p.Trp356Ter
NM_001354627.1:c.1067G>A	NP_001341556.1:p.Trp356Ter
NM_001354628.1:c.2048G>A	NP_001341557.1:p.Trp683Ter
NM_001354629.1:c.2042G>A	NP_001341558.1:p.Trp681Ter
NM_001354630.1:c.1976G>A	NP_001341559.1:p.Trp659Ter
XM_005265161.2:c.1934G>A	XP_005265218.1:p.Trp645Ter
XM_017006450.2:c.1118G>A	XP_016861939.1:p.Trp373Ter
NM_000249.4:c.2141G>A MANE Select	NP_000240.1:p.Trp714Ter
NM_001167617.3:c.1847G>A	NP_001161089.1:p.Trp616Ter
NM_001167618.3:c.1418G>A	NP_001161090.1:p.Trp473Ter
NM_001167619.3:c.1418G>A	NP_001161091.1:p.Trp473Ter
NM_001258271.2:c.1934G>A	NP_001245200.1:p.Trp645Ter
NM_001258273.2:c.1418G>A	NP_001245202.1:p.Trp473Ter
NM_001258274.3:c.1418G>A	NP_001245203.1:p.Trp473Ter
NM_001354615.2:c.1418G>A	NP_001341544.1:p.Trp473Ter
NM_001354616.2:c.1418G>A	NP_001341545.1:p.Trp473Ter
NM_001354617.2:c.1418G>A	NP_001341546.1:p.Trp473Ter
NM_001354618.2:c.1418G>A	NP_001341547.1:p.Trp473Ter
NM_001354619.2:c.1418G>A	NP_001341548.1:p.Trp473Ter
NM_001354620.2:c.1847G>A	NP_001341549.1:p.Trp616Ter
NM_001354621.2:c.1118G>A	NP_001341550.1:p.Trp373Ter
NM_001354622.2:c.1118G>A	NP_001341551.1:p.Trp373Ter
NM_001354623.2:c.1118G>A	NP_001341552.1:p.Trp373Ter
NM_001354624.2:c.1067G>A	NP_001341553.1:p.Trp356Ter
NM_001354625.2:c.1067G>A	NP_001341554.1:p.Trp356Ter
NM_001354626.2:c.1067G>A	NP_001341555.1:p.Trp356Ter
NM_001354627.2:c.1067G>A	NP_001341556.1:p.Trp356Ter
NM_001354628.2:c.2048G>A	NP_001341557.1:p.Trp683Ter
NM_001354629.2:c.2042G>A	NP_001341558.1:p.Trp681Ter
NM_001354630.2:c.1976G>A	NP_001341559.1:p.Trp659Ter