Canonical Allele Identifier: CA352069396
Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 999886
ClinVar RCV Id: RCV001295938
dbSNP Id: rs2085636960
gnomAD v4: 3-37050561-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.37050561C>T , CM000665.2:g.37050561C>T GRCh38
NC_000003.11:g.37092052C>T , CM000665.1:g.37092052C>T GRCh37
NC_000003.10:g.37067056C>T NCBI36
NG_007109.2:g.62212C>T , LRG_216:g.62212C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.1743C>T ENSP00000416476.2:p.His581=
ENST00000429117.6:c.1885C>T ENSP00000407019.2:p.His629Tyr
ENST00000456676.7:c.1972C>T ENSP00000416687.3:p.His658Tyr
ENST00000492474.6:c.1456C>T ENSP00000518393.1:p.His486Tyr
ENST00000616768.6:c.2086C>T ENSP00000480669.3:p.His696Tyr
ENST00000673673.2:c.2014C>T ENSP00000500979.2:p.His672Tyr
ENST00000231790.8:c.2179C>T MANE Select ENSP00000231790.3:p.His727Tyr
ENST00000413212.2:c.*1097C>T ENSP00000400844.2:n.*1097C>T
ENST00000432299.6:c.*2011C>T ENSP00000416783.1:n.*2011C>T
ENST00000447829.6:c.*1290C>T ENSP00000399329.2:n.*1290C>T
ENST00000539477.6:c.1456C>T ENSP00000443665.1:p.His486Tyr
ENST00000616768.5:c.1123C>T ENSP00000480669.2:p.His375Tyr
ENST00000673673.1:c.1967C>T
ENST00000673741.1:n.1213C>T
ENST00000673889.1:n.1561C>T
ENST00000673897.1:c.*1971C>T ENSP00000501109.1:n.*1971C>T
ENST00000673899.1:c.1447C>T ENSP00000501030.1:p.His483Tyr
ENST00000673947.1:c.*2319C>T ENSP00000501304.1:n.*2319C>T
ENST00000673972.1:c.*2057C>T ENSP00000501281.1:n.*2057C>T
ENST00000674019.1:c.1456C>T ENSP00000501081.1:p.His486Tyr
ENST00000674111.1:c.*408C>T ENSP00000501162.1:n.*408C>T
ENST00000674125.1:n.890C>T
ENST00000231790.6:c.2179C>T ENSP00000231790.2:p.His727Tyr
ENST00000435176.5:c.1885C>T ENSP00000402564.1:p.His629Tyr
ENST00000455445.6:c.1456C>T ENSP00000398272.2:p.His486Tyr
ENST00000456676.6:c.1947C>T
ENST00000458205.6:c.1456C>T ENSP00000402667.2:p.His486Tyr
ENST00000536378.5:c.1456C>T ENSP00000444286.2:p.His486Tyr
ENST00000539477.5:c.1456C>T ENSP00000443665.1:p.His486Tyr
NM_000249.3:c.2179C>T , LRG_216t1:c.2179C>T NP_000240.1:p.His727Tyr
NM_001167617.1:c.1885C>T NP_001161089.1:p.His629Tyr
NM_001167618.1:c.1456C>T NP_001161090.1:p.His486Tyr
NM_001167619.1:c.1456C>T NP_001161091.1:p.His486Tyr
NM_001258271.1:c.1972C>T NP_001245200.1:p.His658Tyr
NM_001258273.1:c.1456C>T NP_001245202.1:p.His486Tyr
NM_001258274.1:c.1456C>T NP_001245203.1:p.His486Tyr
XM_005265161.1:c.1972C>T XP_005265218.1:p.His658Tyr
XM_005265163.1:c.1456C>T XP_005265220.1:p.His486Tyr
XM_005265164.1:c.1456C>T XP_005265221.1:p.His486Tyr
XM_005265166.1:c.1156C>T XP_005265223.1:p.His386Tyr
XM_011533727.1:c.1105C>T XP_011532029.1:p.His369Tyr
NM_001167617.2:c.1885C>T NP_001161089.1:p.His629Tyr
NM_001167618.2:c.1456C>T NP_001161090.1:p.His486Tyr
NM_001167619.2:c.1456C>T NP_001161091.1:p.His486Tyr
NM_001258274.2:c.1456C>T NP_001245203.1:p.His486Tyr
NM_001354615.1:c.1456C>T NP_001341544.1:p.His486Tyr
NM_001354616.1:c.1456C>T NP_001341545.1:p.His486Tyr
NM_001354617.1:c.1456C>T NP_001341546.1:p.His486Tyr
NM_001354618.1:c.1456C>T NP_001341547.1:p.His486Tyr
NM_001354619.1:c.1456C>T NP_001341548.1:p.His486Tyr
NM_001354620.1:c.1885C>T NP_001341549.1:p.His629Tyr
NM_001354621.1:c.1156C>T NP_001341550.1:p.His386Tyr
NM_001354622.1:c.1156C>T NP_001341551.1:p.His386Tyr
NM_001354623.1:c.1156C>T NP_001341552.1:p.His386Tyr
NM_001354624.1:c.1105C>T NP_001341553.1:p.His369Tyr
NM_001354625.1:c.1105C>T NP_001341554.1:p.His369Tyr
NM_001354626.1:c.1105C>T NP_001341555.1:p.His369Tyr
NM_001354627.1:c.1105C>T NP_001341556.1:p.His369Tyr
NM_001354628.1:c.2086C>T NP_001341557.1:p.His696Tyr
NM_001354629.1:c.2080C>T NP_001341558.1:p.His694Tyr
NM_001354630.1:c.2014C>T NP_001341559.1:p.His672Tyr
XM_005265161.2:c.1972C>T XP_005265218.1:p.His658Tyr
XM_017006450.2:c.1156C>T XP_016861939.1:p.His386Tyr
NM_000249.4:c.2179C>T MANE Select NP_000240.1:p.His727Tyr
NM_001167617.3:c.1885C>T NP_001161089.1:p.His629Tyr
NM_001167618.3:c.1456C>T NP_001161090.1:p.His486Tyr
NM_001167619.3:c.1456C>T NP_001161091.1:p.His486Tyr
NM_001258271.2:c.1972C>T NP_001245200.1:p.His658Tyr
NM_001258273.2:c.1456C>T NP_001245202.1:p.His486Tyr
NM_001258274.3:c.1456C>T NP_001245203.1:p.His486Tyr
NM_001354615.2:c.1456C>T NP_001341544.1:p.His486Tyr
NM_001354616.2:c.1456C>T NP_001341545.1:p.His486Tyr
NM_001354617.2:c.1456C>T NP_001341546.1:p.His486Tyr
NM_001354618.2:c.1456C>T NP_001341547.1:p.His486Tyr
NM_001354619.2:c.1456C>T NP_001341548.1:p.His486Tyr
NM_001354620.2:c.1885C>T NP_001341549.1:p.His629Tyr
NM_001354621.2:c.1156C>T NP_001341550.1:p.His386Tyr
NM_001354622.2:c.1156C>T NP_001341551.1:p.His386Tyr
NM_001354623.2:c.1156C>T NP_001341552.1:p.His386Tyr
NM_001354624.2:c.1105C>T NP_001341553.1:p.His369Tyr
NM_001354625.2:c.1105C>T NP_001341554.1:p.His369Tyr
NM_001354626.2:c.1105C>T NP_001341555.1:p.His369Tyr
NM_001354627.2:c.1105C>T NP_001341556.1:p.His369Tyr
NM_001354628.2:c.2086C>T NP_001341557.1:p.His696Tyr
NM_001354629.2:c.2080C>T NP_001341558.1:p.His694Tyr
NM_001354630.2:c.2014C>T NP_001341559.1:p.His672Tyr