Canonical Allele Identifier: CA16604876

Gene: MLH1

Linked Data

• ClinVar Variation Id: 391017
• ClinVar RCV Id: RCV000429872 ; RCV002063573
• dbSNP Id: rs864622596
• COSMIC: COSM3593041
• MyVariant Identifiers: chr3:g.37035069C>T (hg19) ; chr3:g.36993578C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36993578C>T , CM000665.2:g.36993578C>T	GRCh38
NC_000003.11:g.37035069C>T , CM000665.1:g.37035069C>T	GRCh37
NC_000003.10:g.37010073C>T	NCBI36
NG_007109.2:g.5229C>T , LRG_216:g.5229C>T
NG_008418.1:g.4727G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.31C>T	ENSP00000416476.2:p.Leu11=
ENST00000450420.6:c.31C>T	ENSP00000393006.2:p.Leu11=
ENST00000456676.7:c.31C>T	ENSP00000416687.3:p.Leu11=
ENST00000458009.6:c.31C>T	ENSP00000411066.2:p.Leu11=
ENST00000616768.6:c.31C>T	ENSP00000480669.3:p.Leu11=
ENST00000673673.2:c.31C>T	ENSP00000500979.2:p.Leu11=
ENST00000231790.8:c.31C>T MANE Select	ENSP00000231790.3:p.Leu11=
ENST00000432299.6:c.31C>T	ENSP00000416783.1:p.Leu11=
ENST00000442249.6:n.46C>T
ENST00000673713.1:n.62C>T
ENST00000673715.1:c.31C>T	ENSP00000501301.1:p.Leu11=
ENST00000673897.1:c.31C>T	ENSP00000501109.1:p.Leu11=
ENST00000673899.1:c.31C>T	ENSP00000501030.1:p.Leu11=
ENST00000673947.1:c.31C>T	ENSP00000501304.1:p.Leu11=
ENST00000673972.1:c.31C>T	ENSP00000501281.1:p.Leu11=
ENST00000674111.1:c.31C>T	ENSP00000501162.1:p.Leu11=
ENST00000231790.6:c.31C>T	ENSP00000231790.2:p.Leu11=
ENST00000432299.5:c.31C>T	ENSP00000416783.1:p.Leu11=
ENST00000442249.5:c.31C>T	ENSP00000387511.1:p.Leu11=
ENST00000454028.5:c.31C>T	ENSP00000392649.1:p.Leu11=
ENST00000456676.6:c.6C>T
ENST00000457004.5:c.31C>T	ENSP00000407773.1:p.Leu11=
ENST00000536378.5:c.-602C>T	ENSP00000444286.2:n.-602C>T
NM_000249.3:c.31C>T , LRG_216t1:c.31C>T	NP_000240.1:p.Leu11=
NM_001258271.1:c.31C>T	NP_001245200.1:p.Leu11=
NM_001258273.1:c.-602C>T	NP_001245202.1:n.-602C>T
XM_005265161.1:c.31C>T	XP_005265218.1:p.Leu11=
XM_005265164.1:c.-688C>T	XP_005265221.1:n.-688C>T
NM_001167617.2:c.-486C>T	NP_001161089.1:n.-486C>T
NM_001167618.2:c.-915C>T	NP_001161090.1:n.-915C>T
NM_001167619.2:c.-828C>T	NP_001161091.1:n.-828C>T
NM_001258274.2:c.-1065C>T	NP_001245203.1:n.-1065C>T
NM_001354615.1:c.-596C>T	NP_001341544.1:n.-596C>T
NM_001354616.1:c.-596C>T	NP_001341545.1:n.-596C>T
NM_001354617.1:c.-688C>T	NP_001341546.1:n.-688C>T
NM_001354618.1:c.-920C>T	NP_001341547.1:n.-920C>T
NM_001354619.1:c.-1044C>T	NP_001341548.1:n.-1044C>T
NM_001354620.1:c.-254C>T	NP_001341549.1:n.-254C>T
NM_001354621.1:c.-1013C>T	NP_001341550.1:n.-1013C>T
NM_001354622.1:c.-1126C>T	NP_001341551.1:n.-1126C>T
NM_001354623.1:c.-1035C>T	NP_001341552.1:n.-1035C>T
NM_001354624.1:c.-796C>T	NP_001341553.1:n.-796C>T
NM_001354625.1:c.-694C>T	NP_001341554.1:n.-694C>T
NM_001354626.1:c.-791C>T	NP_001341555.1:n.-791C>T
NM_001354627.1:c.-1023C>T	NP_001341556.1:n.-1023C>T
NM_001354628.1:c.31C>T	NP_001341557.1:p.Leu11=
NM_001354629.1:c.31C>T	NP_001341558.1:p.Leu11=
NM_001354630.1:c.31C>T	NP_001341559.1:p.Leu11=
XM_005265161.2:c.31C>T	XP_005265218.1:p.Leu11=
XM_017006450.2:c.-781C>T	XP_016861939.1:n.-781C>T
NM_000249.4:c.31C>T MANE Select	NP_000240.1:p.Leu11=
NM_001167617.3:c.-486C>T	NP_001161089.1:n.-486C>T
NM_001167618.3:c.-915C>T	NP_001161090.1:n.-915C>T
NM_001167619.3:c.-828C>T	NP_001161091.1:n.-828C>T
NM_001258271.2:c.31C>T	NP_001245200.1:p.Leu11=
NM_001258273.2:c.-602C>T	NP_001245202.1:n.-602C>T
NM_001258274.3:c.-1065C>T	NP_001245203.1:n.-1065C>T
NM_001354615.2:c.-596C>T	NP_001341544.1:n.-596C>T
NM_001354616.2:c.-596C>T	NP_001341545.1:n.-596C>T
NM_001354617.2:c.-688C>T	NP_001341546.1:n.-688C>T
NM_001354618.2:c.-920C>T	NP_001341547.1:n.-920C>T
NM_001354619.2:c.-1044C>T	NP_001341548.1:n.-1044C>T
NM_001354620.2:c.-254C>T	NP_001341549.1:n.-254C>T
NM_001354621.2:c.-1013C>T	NP_001341550.1:n.-1013C>T
NM_001354622.2:c.-1126C>T	NP_001341551.1:n.-1126C>T
NM_001354623.2:c.-1035C>T	NP_001341552.1:n.-1035C>T
NM_001354624.2:c.-796C>T	NP_001341553.1:n.-796C>T
NM_001354625.2:c.-694C>T	NP_001341554.1:n.-694C>T
NM_001354626.2:c.-791C>T	NP_001341555.1:n.-791C>T
NM_001354627.2:c.-1023C>T	NP_001341556.1:n.-1023C>T
NM_001354628.2:c.31C>T	NP_001341557.1:p.Leu11=
NM_001354629.2:c.31C>T	NP_001341558.1:p.Leu11=
NM_001354630.2:c.31C>T	NP_001341559.1:p.Leu11=