Canonical Allele Identifier: CA352069921
Gene: MLH1 HGNC NCBI

Linked Data

dbSNP Id: rs1553666145

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.37050649G>C , CM000665.2:g.37050649G>C GRCh38
NC_000003.11:g.37092140G>C , CM000665.1:g.37092140G>C GRCh37
NC_000003.10:g.37067144G>C NCBI36
NG_007109.2:g.62300G>C , LRG_216:g.62300G>C
NG_053016.1:g.131169C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000413740.2:c.1831G>C ENSP00000416476.2:p.Val611Leu
ENST00000429117.6:c.1973G>C ENSP00000407019.2:p.Cys658Ser
ENST00000456676.7:c.2060G>C ENSP00000416687.3:p.Cys687Ser
ENST00000492474.6:c.1544G>C ENSP00000518393.1:p.Cys515Ser
ENST00000616768.6:c.2174G>C ENSP00000480669.3:p.Cys725Ser
ENST00000673673.2:c.2102G>C ENSP00000500979.2:p.Cys701Ser
ENST00000231790.8:c.2267G>C MANE Select ENSP00000231790.3:p.Cys756Ser
ENST00000413212.2:c.*1185G>C ENSP00000400844.2:n.*1185G>C
ENST00000432299.6:c.*2099G>C ENSP00000416783.1:n.*2099G>C
ENST00000447829.6:c.*1378G>C ENSP00000399329.2:n.*1378G>C
ENST00000539477.6:c.1544G>C ENSP00000443665.1:p.Cys515Ser
ENST00000616768.5:c.1211G>C ENSP00000480669.2:p.Cys404Ser
ENST00000673673.1:c.2055G>C
ENST00000673741.1:n.1301G>C
ENST00000673889.1:n.1649G>C
ENST00000673897.1:c.*2059G>C ENSP00000501109.1:n.*2059G>C
ENST00000673899.1:c.1535G>C ENSP00000501030.1:p.Cys512Ser
ENST00000673947.1:c.*2407G>C ENSP00000501304.1:n.*2407G>C
ENST00000673972.1:c.*2145G>C ENSP00000501281.1:n.*2145G>C
ENST00000674019.1:c.1544G>C ENSP00000501081.1:p.Cys515Ser
ENST00000674111.1:c.*496G>C ENSP00000501162.1:n.*496G>C
ENST00000674125.1:n.978G>C
ENST00000231790.6:c.2267G>C ENSP00000231790.2:p.Cys756Ser
ENST00000435176.5:c.1973G>C ENSP00000402564.1:p.Cys658Ser
ENST00000455445.6:c.1544G>C ENSP00000398272.2:p.Cys515Ser
ENST00000456676.6:c.2035G>C
ENST00000458205.6:c.1544G>C ENSP00000402667.2:p.Cys515Ser
ENST00000536378.5:c.1544G>C ENSP00000444286.2:p.Cys515Ser
ENST00000539477.5:c.1544G>C ENSP00000443665.1:p.Cys515Ser
NM_000249.3:c.2267G>C , LRG_216t1:c.2267G>C NP_000240.1:p.Cys756Ser
NM_001167617.1:c.1973G>C NP_001161089.1:p.Cys658Ser
NM_001167618.1:c.1544G>C NP_001161090.1:p.Cys515Ser
NM_001167619.1:c.1544G>C NP_001161091.1:p.Cys515Ser
NM_001258271.1:c.2060G>C NP_001245200.1:p.Cys687Ser
NM_001258273.1:c.1544G>C NP_001245202.1:p.Cys515Ser
NM_001258274.1:c.1544G>C NP_001245203.1:p.Cys515Ser
XM_005265161.1:c.2060G>C XP_005265218.1:p.Cys687Ser
XM_005265163.1:c.1544G>C XP_005265220.1:p.Cys515Ser
XM_005265164.1:c.1544G>C XP_005265221.1:p.Cys515Ser
XM_005265166.1:c.1244G>C XP_005265223.1:p.Cys415Ser
XM_011533727.1:c.1193G>C XP_011532029.1:p.Cys398Ser
NM_001167617.2:c.1973G>C NP_001161089.1:p.Cys658Ser
NM_001167618.2:c.1544G>C NP_001161090.1:p.Cys515Ser
NM_001167619.2:c.1544G>C NP_001161091.1:p.Cys515Ser
NM_001258274.2:c.1544G>C NP_001245203.1:p.Cys515Ser
NM_001354615.1:c.1544G>C NP_001341544.1:p.Cys515Ser
NM_001354616.1:c.1544G>C NP_001341545.1:p.Cys515Ser
NM_001354617.1:c.1544G>C NP_001341546.1:p.Cys515Ser
NM_001354618.1:c.1544G>C NP_001341547.1:p.Cys515Ser
NM_001354619.1:c.1544G>C NP_001341548.1:p.Cys515Ser
NM_001354620.1:c.1973G>C NP_001341549.1:p.Cys658Ser
NM_001354621.1:c.1244G>C NP_001341550.1:p.Cys415Ser
NM_001354622.1:c.1244G>C NP_001341551.1:p.Cys415Ser
NM_001354623.1:c.1244G>C NP_001341552.1:p.Cys415Ser
NM_001354624.1:c.1193G>C NP_001341553.1:p.Cys398Ser
NM_001354625.1:c.1193G>C NP_001341554.1:p.Cys398Ser
NM_001354626.1:c.1193G>C NP_001341555.1:p.Cys398Ser
NM_001354627.1:c.1193G>C NP_001341556.1:p.Cys398Ser
NM_001354628.1:c.2174G>C NP_001341557.1:p.Cys725Ser
NM_001354629.1:c.2168G>C NP_001341558.1:p.Cys723Ser
NM_001354630.1:c.2102G>C NP_001341559.1:p.Cys701Ser
XM_005265161.2:c.2060G>C XP_005265218.1:p.Cys687Ser
XM_017006450.2:c.1244G>C XP_016861939.1:p.Cys415Ser
NM_000249.4:c.2267G>C MANE Select NP_000240.1:p.Cys756Ser
NM_001167617.3:c.1973G>C NP_001161089.1:p.Cys658Ser
NM_001167618.3:c.1544G>C NP_001161090.1:p.Cys515Ser
NM_001167619.3:c.1544G>C NP_001161091.1:p.Cys515Ser
NM_001258271.2:c.2060G>C NP_001245200.1:p.Cys687Ser
NM_001258273.2:c.1544G>C NP_001245202.1:p.Cys515Ser
NM_001258274.3:c.1544G>C NP_001245203.1:p.Cys515Ser
NM_001354615.2:c.1544G>C NP_001341544.1:p.Cys515Ser
NM_001354616.2:c.1544G>C NP_001341545.1:p.Cys515Ser
NM_001354617.2:c.1544G>C NP_001341546.1:p.Cys515Ser
NM_001354618.2:c.1544G>C NP_001341547.1:p.Cys515Ser
NM_001354619.2:c.1544G>C NP_001341548.1:p.Cys515Ser
NM_001354620.2:c.1973G>C NP_001341549.1:p.Cys658Ser
NM_001354621.2:c.1244G>C NP_001341550.1:p.Cys415Ser
NM_001354622.2:c.1244G>C NP_001341551.1:p.Cys415Ser
NM_001354623.2:c.1244G>C NP_001341552.1:p.Cys415Ser
NM_001354624.2:c.1193G>C NP_001341553.1:p.Cys398Ser
NM_001354625.2:c.1193G>C NP_001341554.1:p.Cys398Ser
NM_001354626.2:c.1193G>C NP_001341555.1:p.Cys398Ser
NM_001354627.2:c.1193G>C NP_001341556.1:p.Cys398Ser
NM_001354628.2:c.2174G>C NP_001341557.1:p.Cys725Ser
NM_001354629.2:c.2168G>C NP_001341558.1:p.Cys723Ser
NM_001354630.2:c.2102G>C NP_001341559.1:p.Cys701Ser