Canonical Allele Identifier: CA004556

Gene: MLH1

Linked Data

• ClinVar Variation Id: 89658
• ClinVar RCV Id: RCV000075129 ; RCV000413453 ; RCV000694368 ; RCV000776333 ; RCV001358274 ; RCV003451008
• dbSNP Id: rs267607710
• gnomAD v4: 3-36993668-G-C
• MyVariant Identifiers: chr3:g.37035159G>C (hg19) ; chr3:g.36993668G>C (hg38)
• PubMed: PMID:15713769 ; PMID:19267393 ; PMID:22949379

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36993668G>C , CM000665.2:g.36993668G>C	GRCh38
NC_000003.11:g.37035159G>C , CM000665.1:g.37035159G>C	GRCh37
NC_000003.10:g.37010163G>C	NCBI36
NG_007109.2:g.5319G>C , LRG_216:g.5319G>C
NG_008418.1:g.4637C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.116+5G>C	ENSP00000416476.2:n.116+5G>C
ENST00000450420.6:c.116+5G>C	ENSP00000393006.2:n.116+5G>C
ENST00000456676.7:c.116+5G>C	ENSP00000416687.3:n.116+5G>C
ENST00000458009.6:c.116+5G>C	ENSP00000411066.2:n.116+5G>C
ENST00000616768.6:c.116+5G>C	ENSP00000480669.3:n.116+5G>C
ENST00000673673.2:c.116+5G>C	ENSP00000500979.2:n.116+5G>C
ENST00000231790.8:c.116+5G>C MANE Select	ENSP00000231790.3:n.116+5G>C
ENST00000432299.6:c.121G>C	ENSP00000416783.1:p.Gly41Arg
ENST00000442249.6:n.131+5G>C
ENST00000673673.1:c.69+5G>C
ENST00000673713.1:n.147+5G>C
ENST00000673715.1:c.116+5G>C	ENSP00000501301.1:n.116+5G>C
ENST00000673897.1:c.116+5G>C	ENSP00000501109.1:n.116+5G>C
ENST00000673899.1:c.116+5G>C	ENSP00000501030.1:n.116+5G>C
ENST00000673947.1:c.116+5G>C	ENSP00000501304.1:n.116+5G>C
ENST00000673972.1:c.116+5G>C	ENSP00000501281.1:n.116+5G>C
ENST00000674111.1:c.116+5G>C	ENSP00000501162.1:n.116+5G>C
ENST00000231790.6:c.116+5G>C	ENSP00000231790.2:n.116+5G>C
ENST00000432299.5:c.121G>C	ENSP00000416783.1:p.Gly41Arg
ENST00000442249.5:c.116+5G>C	ENSP00000387511.1:n.116+5G>C
ENST00000454028.5:c.116+5G>C	ENSP00000392649.1:n.116+5G>C
ENST00000456676.6:c.91+5G>C
ENST00000457004.5:c.116+5G>C	ENSP00000407773.1:n.116+5G>C
ENST00000536378.5:c.-517+5G>C	ENSP00000444286.2:n.-517+5G>C
NM_000249.3:c.116+5G>C , LRG_216t1:c.116+5G>C	NP_000240.1:n.116+5G>C
NM_001258271.1:c.116+5G>C	NP_001245200.1:n.116+5G>C
NM_001258273.1:c.-517+5G>C	NP_001245202.1:n.-517+5G>C
XM_005265161.1:c.116+5G>C	XP_005265218.1:n.116+5G>C
XM_005265164.1:c.-603+5G>C	XP_005265221.1:n.-603+5G>C
NM_001167617.2:c.-396G>C	NP_001161089.1:n.-396G>C
NM_001167618.2:c.-825G>C	NP_001161090.1:n.-825G>C
NM_001167619.2:c.-738G>C	NP_001161091.1:n.-738G>C
NM_001258274.2:c.-975G>C	NP_001245203.1:n.-975G>C
NM_001354615.1:c.-511+5G>C	NP_001341544.1:n.-511+5G>C
NM_001354616.1:c.-511+5G>C	NP_001341545.1:n.-511+5G>C
NM_001354617.1:c.-603+5G>C	NP_001341546.1:n.-603+5G>C
NM_001354618.1:c.-830G>C	NP_001341547.1:n.-830G>C
NM_001354619.1:c.-954G>C	NP_001341548.1:n.-954G>C
NM_001354620.1:c.-169+5G>C	NP_001341549.1:n.-169+5G>C
NM_001354621.1:c.-923G>C	NP_001341550.1:n.-923G>C
NM_001354622.1:c.-1036G>C	NP_001341551.1:n.-1036G>C
NM_001354623.1:c.-945G>C	NP_001341552.1:n.-945G>C
NM_001354624.1:c.-711+5G>C	NP_001341553.1:n.-711+5G>C
NM_001354625.1:c.-609+5G>C	NP_001341554.1:n.-609+5G>C
NM_001354626.1:c.-706+5G>C	NP_001341555.1:n.-706+5G>C
NM_001354627.1:c.-933G>C	NP_001341556.1:n.-933G>C
NM_001354628.1:c.116+5G>C	NP_001341557.1:n.116+5G>C
NM_001354629.1:c.116+5G>C	NP_001341558.1:n.116+5G>C
NM_001354630.1:c.116+5G>C	NP_001341559.1:n.116+5G>C
XM_005265161.2:c.116+5G>C	XP_005265218.1:n.116+5G>C
XM_017006450.2:c.-696+5G>C	XP_016861939.1:n.-696+5G>C
NM_000249.4:c.116+5G>C MANE Select	NP_000240.1:n.116+5G>C
NM_001167617.3:c.-396G>C	NP_001161089.1:n.-396G>C
NM_001167618.3:c.-825G>C	NP_001161090.1:n.-825G>C
NM_001167619.3:c.-738G>C	NP_001161091.1:n.-738G>C
NM_001258271.2:c.116+5G>C	NP_001245200.1:n.116+5G>C
NM_001258273.2:c.-517+5G>C	NP_001245202.1:n.-517+5G>C
NM_001258274.3:c.-975G>C	NP_001245203.1:n.-975G>C
NM_001354615.2:c.-511+5G>C	NP_001341544.1:n.-511+5G>C
NM_001354616.2:c.-511+5G>C	NP_001341545.1:n.-511+5G>C
NM_001354617.2:c.-603+5G>C	NP_001341546.1:n.-603+5G>C
NM_001354618.2:c.-830G>C	NP_001341547.1:n.-830G>C
NM_001354619.2:c.-954G>C	NP_001341548.1:n.-954G>C
NM_001354620.2:c.-169+5G>C	NP_001341549.1:n.-169+5G>C
NM_001354621.2:c.-923G>C	NP_001341550.1:n.-923G>C
NM_001354622.2:c.-1036G>C	NP_001341551.1:n.-1036G>C
NM_001354623.2:c.-945G>C	NP_001341552.1:n.-945G>C
NM_001354624.2:c.-711+5G>C	NP_001341553.1:n.-711+5G>C
NM_001354625.2:c.-609+5G>C	NP_001341554.1:n.-609+5G>C
NM_001354626.2:c.-706+5G>C	NP_001341555.1:n.-706+5G>C
NM_001354627.2:c.-933G>C	NP_001341556.1:n.-933G>C
NM_001354628.2:c.116+5G>C	NP_001341557.1:n.116+5G>C
NM_001354629.2:c.116+5G>C	NP_001341558.1:n.116+5G>C
NM_001354630.2:c.116+5G>C	NP_001341559.1:n.116+5G>C