Canonical Allele Identifier: CA011236

Gene: MLH1

Linked Data

• ClinVar Variation Id: 182533
• ClinVar RCV Id: RCV000160548 ; RCV000221241 ; RCV000555345 ; RCV000708910 ; RCV001147827
• dbSNP Id: rs587779029
• ExAC: 3:37035043 C / T
• gnomAD v2: 3-37035043-C-T
• gnomAD v3: 3-36993552-C-T
• gnomAD v4: 3-36993552-C-T
• COSMIC: COSM41604
• MyVariant Identifiers: chr3:g.37035043C>T (hg19) ; chr3:g.36993552C>T (hg38)
• PubMed: PMID:20176655

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36993552C>T , CM000665.2:g.36993552C>T	GRCh38
NC_000003.11:g.37035043C>T , CM000665.1:g.37035043C>T	GRCh37
NC_000003.10:g.37010047C>T	NCBI36
NG_007109.2:g.5203C>T , LRG_216:g.5203C>T
NG_008418.1:g.4753G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000413740.2:c.5C>T	ENSP00000416476.2:p.Ser2Leu
ENST00000450420.6:c.5C>T	ENSP00000393006.2:p.Ser2Leu
ENST00000456676.7:c.5C>T	ENSP00000416687.3:p.Ser2Leu
ENST00000458009.6:c.5C>T	ENSP00000411066.2:p.Ser2Leu
ENST00000616768.6:c.5C>T	ENSP00000480669.3:p.Ser2Leu
ENST00000673673.2:c.5C>T	ENSP00000500979.2:p.Ser2Leu
ENST00000231790.8:c.5C>T MANE Select	ENSP00000231790.3:p.Ser2Leu
ENST00000432299.6:c.5C>T	ENSP00000416783.1:p.Ser2Leu
ENST00000442249.6:n.20C>T
ENST00000673713.1:n.36C>T
ENST00000673715.1:c.5C>T	ENSP00000501301.1:p.Ser2Leu
ENST00000673897.1:c.5C>T	ENSP00000501109.1:p.Ser2Leu
ENST00000673899.1:c.5C>T	ENSP00000501030.1:p.Ser2Leu
ENST00000673947.1:c.5C>T	ENSP00000501304.1:p.Ser2Leu
ENST00000673972.1:c.5C>T	ENSP00000501281.1:p.Ser2Leu
ENST00000674111.1:c.5C>T	ENSP00000501162.1:p.Ser2Leu
ENST00000231790.6:c.5C>T	ENSP00000231790.2:p.Ser2Leu
ENST00000432299.5:c.5C>T	ENSP00000416783.1:p.Ser2Leu
ENST00000442249.5:c.5C>T	ENSP00000387511.1:p.Ser2Leu
ENST00000454028.5:c.5C>T	ENSP00000392649.1:p.Ser2Leu
ENST00000457004.5:c.5C>T	ENSP00000407773.1:p.Ser2Leu
ENST00000536378.5:c.-628C>T	ENSP00000444286.2:n.-628C>T
NM_000249.3:c.5C>T , LRG_216t1:c.5C>T	NP_000240.1:p.Ser2Leu
NM_001258271.1:c.5C>T	NP_001245200.1:p.Ser2Leu
NM_001258273.1:c.-628C>T	NP_001245202.1:n.-628C>T
XM_005265161.1:c.5C>T	XP_005265218.1:p.Ser2Leu
XM_005265164.1:c.-714C>T	XP_005265221.1:n.-714C>T
NM_001167617.2:c.-512C>T	NP_001161089.1:n.-512C>T
NM_001167618.2:c.-941C>T	NP_001161090.1:n.-941C>T
NM_001167619.2:c.-854C>T	NP_001161091.1:n.-854C>T
NM_001258274.2:c.-1091C>T	NP_001245203.1:n.-1091C>T
NM_001354615.1:c.-622C>T	NP_001341544.1:n.-622C>T
NM_001354616.1:c.-622C>T	NP_001341545.1:n.-622C>T
NM_001354617.1:c.-714C>T	NP_001341546.1:n.-714C>T
NM_001354618.1:c.-946C>T	NP_001341547.1:n.-946C>T
NM_001354619.1:c.-1070C>T	NP_001341548.1:n.-1070C>T
NM_001354620.1:c.-280C>T	NP_001341549.1:n.-280C>T
NM_001354621.1:c.-1039C>T	NP_001341550.1:n.-1039C>T
NM_001354622.1:c.-1152C>T	NP_001341551.1:n.-1152C>T
NM_001354623.1:c.-1061C>T	NP_001341552.1:n.-1061C>T
NM_001354624.1:c.-822C>T	NP_001341553.1:n.-822C>T
NM_001354625.1:c.-720C>T	NP_001341554.1:n.-720C>T
NM_001354626.1:c.-817C>T	NP_001341555.1:n.-817C>T
NM_001354627.1:c.-1049C>T	NP_001341556.1:n.-1049C>T
NM_001354628.1:c.5C>T	NP_001341557.1:p.Ser2Leu
NM_001354629.1:c.5C>T	NP_001341558.1:p.Ser2Leu
NM_001354630.1:c.5C>T	NP_001341559.1:p.Ser2Leu
XM_005265161.2:c.5C>T	XP_005265218.1:p.Ser2Leu
XM_017006450.2:c.-807C>T	XP_016861939.1:n.-807C>T
NM_000249.4:c.5C>T MANE Select	NP_000240.1:p.Ser2Leu
NM_001167617.3:c.-512C>T	NP_001161089.1:n.-512C>T
NM_001167618.3:c.-941C>T	NP_001161090.1:n.-941C>T
NM_001167619.3:c.-854C>T	NP_001161091.1:n.-854C>T
NM_001258271.2:c.5C>T	NP_001245200.1:p.Ser2Leu
NM_001258273.2:c.-628C>T	NP_001245202.1:n.-628C>T
NM_001258274.3:c.-1091C>T	NP_001245203.1:n.-1091C>T
NM_001354615.2:c.-622C>T	NP_001341544.1:n.-622C>T
NM_001354616.2:c.-622C>T	NP_001341545.1:n.-622C>T
NM_001354617.2:c.-714C>T	NP_001341546.1:n.-714C>T
NM_001354618.2:c.-946C>T	NP_001341547.1:n.-946C>T
NM_001354619.2:c.-1070C>T	NP_001341548.1:n.-1070C>T
NM_001354620.2:c.-280C>T	NP_001341549.1:n.-280C>T
NM_001354621.2:c.-1039C>T	NP_001341550.1:n.-1039C>T
NM_001354622.2:c.-1152C>T	NP_001341551.1:n.-1152C>T
NM_001354623.2:c.-1061C>T	NP_001341552.1:n.-1061C>T
NM_001354624.2:c.-822C>T	NP_001341553.1:n.-822C>T
NM_001354625.2:c.-720C>T	NP_001341554.1:n.-720C>T
NM_001354626.2:c.-817C>T	NP_001341555.1:n.-817C>T
NM_001354627.2:c.-1049C>T	NP_001341556.1:n.-1049C>T
NM_001354628.2:c.5C>T	NP_001341557.1:p.Ser2Leu
NM_001354629.2:c.5C>T	NP_001341558.1:p.Ser2Leu
NM_001354630.2:c.5C>T	NP_001341559.1:p.Ser2Leu