Canonical Allele Identifier: CA004328

Gene: MLH1

Linked Data

• ClinVar Variation Id: 89640
• ClinVar RCV Id: RCV000075110 ; RCV000693918 ; RCV001357016 ; RCV003451004
• dbSNP Id: rs63751012
• gnomAD v4: 3-36993656-G-A
• MyVariant Identifiers: chr3:g.37035147G>A (hg19) ; chr3:g.36993656G>A (hg38)
• PubMed: PMID:18415027 ; PMID:20020535

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36993656G>A , CM000665.2:g.36993656G>A	GRCh38
NC_000003.11:g.37035147G>A , CM000665.1:g.37035147G>A	GRCh37
NC_000003.10:g.37010151G>A	NCBI36
NG_007109.2:g.5307G>A , LRG_216:g.5307G>A
NG_008418.1:g.4649C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.109G>A	ENSP00000416476.2:p.Glu37Lys
ENST00000450420.6:c.109G>A	ENSP00000393006.2:p.Glu37Lys
ENST00000456676.7:c.109G>A	ENSP00000416687.3:p.Glu37Lys
ENST00000458009.6:c.109G>A	ENSP00000411066.2:p.Glu37Lys
ENST00000616768.6:c.109G>A	ENSP00000480669.3:p.Glu37Lys
ENST00000673673.2:c.109G>A	ENSP00000500979.2:p.Glu37Lys
ENST00000231790.8:c.109G>A MANE Select	ENSP00000231790.3:p.Glu37Lys
ENST00000432299.6:c.109G>A	ENSP00000416783.1:p.Glu37Lys
ENST00000442249.6:n.124G>A
ENST00000673673.1:c.62G>A
ENST00000673713.1:n.140G>A
ENST00000673715.1:c.109G>A	ENSP00000501301.1:p.Glu37Lys
ENST00000673897.1:c.109G>A	ENSP00000501109.1:p.Glu37Lys
ENST00000673899.1:c.109G>A	ENSP00000501030.1:p.Glu37Lys
ENST00000673947.1:c.109G>A	ENSP00000501304.1:p.Glu37Lys
ENST00000673972.1:c.109G>A	ENSP00000501281.1:p.Glu37Lys
ENST00000674111.1:c.109G>A	ENSP00000501162.1:p.Glu37Lys
ENST00000231790.6:c.109G>A	ENSP00000231790.2:p.Glu37Lys
ENST00000432299.5:c.109G>A	ENSP00000416783.1:p.Glu37Lys
ENST00000442249.5:c.109G>A	ENSP00000387511.1:p.Glu37Lys
ENST00000454028.5:c.109G>A	ENSP00000392649.1:p.Glu37Lys
ENST00000456676.6:c.84G>A
ENST00000457004.5:c.109G>A	ENSP00000407773.1:p.Glu37Lys
ENST00000536378.5:c.-524G>A	ENSP00000444286.2:n.-524G>A
NM_000249.3:c.109G>A , LRG_216t1:c.109G>A	NP_000240.1:p.Glu37Lys
NM_001258271.1:c.109G>A	NP_001245200.1:p.Glu37Lys
NM_001258273.1:c.-524G>A	NP_001245202.1:n.-524G>A
XM_005265161.1:c.109G>A	XP_005265218.1:p.Glu37Lys
XM_005265164.1:c.-610G>A	XP_005265221.1:n.-610G>A
NM_001167617.2:c.-408G>A	NP_001161089.1:n.-408G>A
NM_001167618.2:c.-837G>A	NP_001161090.1:n.-837G>A
NM_001167619.2:c.-750G>A	NP_001161091.1:n.-750G>A
NM_001258274.2:c.-987G>A	NP_001245203.1:n.-987G>A
NM_001354615.1:c.-518G>A	NP_001341544.1:n.-518G>A
NM_001354616.1:c.-518G>A	NP_001341545.1:n.-518G>A
NM_001354617.1:c.-610G>A	NP_001341546.1:n.-610G>A
NM_001354618.1:c.-842G>A	NP_001341547.1:n.-842G>A
NM_001354619.1:c.-966G>A	NP_001341548.1:n.-966G>A
NM_001354620.1:c.-176G>A	NP_001341549.1:n.-176G>A
NM_001354621.1:c.-935G>A	NP_001341550.1:n.-935G>A
NM_001354622.1:c.-1048G>A	NP_001341551.1:n.-1048G>A
NM_001354623.1:c.-957G>A	NP_001341552.1:n.-957G>A
NM_001354624.1:c.-718G>A	NP_001341553.1:n.-718G>A
NM_001354625.1:c.-616G>A	NP_001341554.1:n.-616G>A
NM_001354626.1:c.-713G>A	NP_001341555.1:n.-713G>A
NM_001354627.1:c.-945G>A	NP_001341556.1:n.-945G>A
NM_001354628.1:c.109G>A	NP_001341557.1:p.Glu37Lys
NM_001354629.1:c.109G>A	NP_001341558.1:p.Glu37Lys
NM_001354630.1:c.109G>A	NP_001341559.1:p.Glu37Lys
XM_005265161.2:c.109G>A	XP_005265218.1:p.Glu37Lys
XM_017006450.2:c.-703G>A	XP_016861939.1:n.-703G>A
NM_000249.4:c.109G>A MANE Select	NP_000240.1:p.Glu37Lys
NM_001167617.3:c.-408G>A	NP_001161089.1:n.-408G>A
NM_001167618.3:c.-837G>A	NP_001161090.1:n.-837G>A
NM_001167619.3:c.-750G>A	NP_001161091.1:n.-750G>A
NM_001258271.2:c.109G>A	NP_001245200.1:p.Glu37Lys
NM_001258273.2:c.-524G>A	NP_001245202.1:n.-524G>A
NM_001258274.3:c.-987G>A	NP_001245203.1:n.-987G>A
NM_001354615.2:c.-518G>A	NP_001341544.1:n.-518G>A
NM_001354616.2:c.-518G>A	NP_001341545.1:n.-518G>A
NM_001354617.2:c.-610G>A	NP_001341546.1:n.-610G>A
NM_001354618.2:c.-842G>A	NP_001341547.1:n.-842G>A
NM_001354619.2:c.-966G>A	NP_001341548.1:n.-966G>A
NM_001354620.2:c.-176G>A	NP_001341549.1:n.-176G>A
NM_001354621.2:c.-935G>A	NP_001341550.1:n.-935G>A
NM_001354622.2:c.-1048G>A	NP_001341551.1:n.-1048G>A
NM_001354623.2:c.-957G>A	NP_001341552.1:n.-957G>A
NM_001354624.2:c.-718G>A	NP_001341553.1:n.-718G>A
NM_001354625.2:c.-616G>A	NP_001341554.1:n.-616G>A
NM_001354626.2:c.-713G>A	NP_001341555.1:n.-713G>A
NM_001354627.2:c.-945G>A	NP_001341556.1:n.-945G>A
NM_001354628.2:c.109G>A	NP_001341557.1:p.Glu37Lys
NM_001354629.2:c.109G>A	NP_001341558.1:p.Glu37Lys
NM_001354630.2:c.109G>A	NP_001341559.1:p.Glu37Lys