Canonical Allele Identifier: CA352060885

Gene: MLH1

Linked Data

• dbSNP Id: rs1348994712
• MyVariant Identifiers: chr3:g.37035108G>C (hg19) ; chr3:g.36993617G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36993617G>C , CM000665.2:g.36993617G>C	GRCh38
NC_000003.11:g.37035108G>C , CM000665.1:g.37035108G>C	GRCh37
NC_000003.10:g.37010112G>C	NCBI36
NG_007109.2:g.5268G>C , LRG_216:g.5268G>C
NG_008418.1:g.4688C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.70G>C	ENSP00000416476.2:p.Val24Leu
ENST00000450420.6:c.70G>C	ENSP00000393006.2:p.Val24Leu
ENST00000456676.7:c.70G>C	ENSP00000416687.3:p.Val24Leu
ENST00000458009.6:c.70G>C	ENSP00000411066.2:p.Val24Leu
ENST00000616768.6:c.70G>C	ENSP00000480669.3:p.Val24Leu
ENST00000673673.2:c.70G>C	ENSP00000500979.2:p.Val24Leu
ENST00000231790.8:c.70G>C MANE Select	ENSP00000231790.3:p.Val24Leu
ENST00000432299.6:c.70G>C	ENSP00000416783.1:p.Val24Leu
ENST00000442249.6:n.85G>C
ENST00000673673.1:c.23G>C
ENST00000673713.1:n.101G>C
ENST00000673715.1:c.70G>C	ENSP00000501301.1:p.Val24Leu
ENST00000673897.1:c.70G>C	ENSP00000501109.1:p.Val24Leu
ENST00000673899.1:c.70G>C	ENSP00000501030.1:p.Val24Leu
ENST00000673947.1:c.70G>C	ENSP00000501304.1:p.Val24Leu
ENST00000673972.1:c.70G>C	ENSP00000501281.1:p.Val24Leu
ENST00000674111.1:c.70G>C	ENSP00000501162.1:p.Val24Leu
ENST00000231790.6:c.70G>C	ENSP00000231790.2:p.Val24Leu
ENST00000432299.5:c.70G>C	ENSP00000416783.1:p.Val24Leu
ENST00000442249.5:c.70G>C	ENSP00000387511.1:p.Val24Leu
ENST00000454028.5:c.70G>C	ENSP00000392649.1:p.Val24Leu
ENST00000456676.6:c.45G>C
ENST00000457004.5:c.70G>C	ENSP00000407773.1:p.Val24Leu
ENST00000536378.5:c.-563G>C	ENSP00000444286.2:n.-563G>C
NM_000249.3:c.70G>C , LRG_216t1:c.70G>C	NP_000240.1:p.Val24Leu
NM_001258271.1:c.70G>C	NP_001245200.1:p.Val24Leu
NM_001258273.1:c.-563G>C	NP_001245202.1:n.-563G>C
XM_005265161.1:c.70G>C	XP_005265218.1:p.Val24Leu
XM_005265164.1:c.-649G>C	XP_005265221.1:n.-649G>C
NM_001167617.2:c.-447G>C	NP_001161089.1:n.-447G>C
NM_001167618.2:c.-876G>C	NP_001161090.1:n.-876G>C
NM_001167619.2:c.-789G>C	NP_001161091.1:n.-789G>C
NM_001258274.2:c.-1026G>C	NP_001245203.1:n.-1026G>C
NM_001354615.1:c.-557G>C	NP_001341544.1:n.-557G>C
NM_001354616.1:c.-557G>C	NP_001341545.1:n.-557G>C
NM_001354617.1:c.-649G>C	NP_001341546.1:n.-649G>C
NM_001354618.1:c.-881G>C	NP_001341547.1:n.-881G>C
NM_001354619.1:c.-1005G>C	NP_001341548.1:n.-1005G>C
NM_001354620.1:c.-215G>C	NP_001341549.1:n.-215G>C
NM_001354621.1:c.-974G>C	NP_001341550.1:n.-974G>C
NM_001354622.1:c.-1087G>C	NP_001341551.1:n.-1087G>C
NM_001354623.1:c.-996G>C	NP_001341552.1:n.-996G>C
NM_001354624.1:c.-757G>C	NP_001341553.1:n.-757G>C
NM_001354625.1:c.-655G>C	NP_001341554.1:n.-655G>C
NM_001354626.1:c.-752G>C	NP_001341555.1:n.-752G>C
NM_001354627.1:c.-984G>C	NP_001341556.1:n.-984G>C
NM_001354628.1:c.70G>C	NP_001341557.1:p.Val24Leu
NM_001354629.1:c.70G>C	NP_001341558.1:p.Val24Leu
NM_001354630.1:c.70G>C	NP_001341559.1:p.Val24Leu
XM_005265161.2:c.70G>C	XP_005265218.1:p.Val24Leu
XM_017006450.2:c.-742G>C	XP_016861939.1:n.-742G>C
NM_000249.4:c.70G>C MANE Select	NP_000240.1:p.Val24Leu
NM_001167617.3:c.-447G>C	NP_001161089.1:n.-447G>C
NM_001167618.3:c.-876G>C	NP_001161090.1:n.-876G>C
NM_001167619.3:c.-789G>C	NP_001161091.1:n.-789G>C
NM_001258271.2:c.70G>C	NP_001245200.1:p.Val24Leu
NM_001258273.2:c.-563G>C	NP_001245202.1:n.-563G>C
NM_001258274.3:c.-1026G>C	NP_001245203.1:n.-1026G>C
NM_001354615.2:c.-557G>C	NP_001341544.1:n.-557G>C
NM_001354616.2:c.-557G>C	NP_001341545.1:n.-557G>C
NM_001354617.2:c.-649G>C	NP_001341546.1:n.-649G>C
NM_001354618.2:c.-881G>C	NP_001341547.1:n.-881G>C
NM_001354619.2:c.-1005G>C	NP_001341548.1:n.-1005G>C
NM_001354620.2:c.-215G>C	NP_001341549.1:n.-215G>C
NM_001354621.2:c.-974G>C	NP_001341550.1:n.-974G>C
NM_001354622.2:c.-1087G>C	NP_001341551.1:n.-1087G>C
NM_001354623.2:c.-996G>C	NP_001341552.1:n.-996G>C
NM_001354624.2:c.-757G>C	NP_001341553.1:n.-757G>C
NM_001354625.2:c.-655G>C	NP_001341554.1:n.-655G>C
NM_001354626.2:c.-752G>C	NP_001341555.1:n.-752G>C
NM_001354627.2:c.-984G>C	NP_001341556.1:n.-984G>C
NM_001354628.2:c.70G>C	NP_001341557.1:p.Val24Leu
NM_001354629.2:c.70G>C	NP_001341558.1:p.Val24Leu
NM_001354630.2:c.70G>C	NP_001341559.1:p.Val24Leu