Canonical Allele Identifier: CA2665005939

Gene: MLH1

Linked Data

• dbSNP Id: rs2125696100
• gnomAD v4: 3-36993771-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36993771A>C , CM000665.2:g.36993771A>C	GRCh38
NC_000003.11:g.37035262A>C , CM000665.1:g.37035262A>C	GRCh37
NC_000003.10:g.37010266A>C	NCBI36
NG_007109.2:g.5422A>C , LRG_216:g.5422A>C
NG_008418.1:g.4534T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.116+108A>C	ENSP00000416476.2:n.116+108A>C
ENST00000450420.6:c.116+108A>C	ENSP00000393006.2:n.116+108A>C
ENST00000456676.7:c.116+108A>C	ENSP00000416687.3:n.116+108A>C
ENST00000458009.6:c.116+108A>C	ENSP00000411066.2:n.116+108A>C
ENST00000616768.6:c.116+108A>C	ENSP00000480669.3:n.116+108A>C
ENST00000673673.2:c.116+108A>C	ENSP00000500979.2:n.116+108A>C
ENST00000231790.8:c.116+108A>C MANE Select	ENSP00000231790.3:n.116+108A>C
ENST00000432299.6:c.*77A>C	ENSP00000416783.1:n.*77A>C
ENST00000442249.6:n.131+108A>C
ENST00000673673.1:c.69+108A>C
ENST00000673713.1:n.147+108A>C
ENST00000673715.1:c.116+108A>C	ENSP00000501301.1:n.116+108A>C
ENST00000673897.1:c.116+108A>C	ENSP00000501109.1:n.116+108A>C
ENST00000673899.1:c.116+108A>C	ENSP00000501030.1:n.116+108A>C
ENST00000673947.1:c.116+108A>C	ENSP00000501304.1:n.116+108A>C
ENST00000673972.1:c.116+108A>C	ENSP00000501281.1:n.116+108A>C
ENST00000674019.1:c.-851A>C	ENSP00000501081.1:n.-851A>C
ENST00000674111.1:c.116+108A>C	ENSP00000501162.1:n.116+108A>C
ENST00000231790.6:c.116+108A>C	ENSP00000231790.2:n.116+108A>C
ENST00000432299.5:c.*77A>C	ENSP00000416783.1:n.*77A>C
ENST00000442249.5:c.116+108A>C	ENSP00000387511.1:n.116+108A>C
ENST00000454028.5:c.116+108A>C	ENSP00000392649.1:n.116+108A>C
ENST00000456676.6:c.91+108A>C
ENST00000457004.5:c.116+108A>C	ENSP00000407773.1:n.116+108A>C
ENST00000536378.5:c.-517+108A>C	ENSP00000444286.2:n.-517+108A>C
NM_000249.3:c.116+108A>C , LRG_216t1:c.116+108A>C	NP_000240.1:n.116+108A>C
NM_001258271.1:c.116+108A>C	NP_001245200.1:n.116+108A>C
NM_001258273.1:c.-517+108A>C	NP_001245202.1:n.-517+108A>C
XM_005265161.1:c.116+108A>C	XP_005265218.1:n.116+108A>C
XM_005265164.1:c.-603+108A>C	XP_005265221.1:n.-603+108A>C
XM_005265166.1:c.-933A>C	XP_005265223.1:n.-933A>C
XM_011533727.1:c.-830A>C	XP_011532029.1:n.-830A>C
NM_001167617.2:c.-293A>C	NP_001161089.1:n.-293A>C
NM_001167618.2:c.-722A>C	NP_001161090.1:n.-722A>C
NM_001167619.2:c.-635A>C	NP_001161091.1:n.-635A>C
NM_001258274.2:c.-872A>C	NP_001245203.1:n.-872A>C
NM_001354615.1:c.-511+108A>C	NP_001341544.1:n.-511+108A>C
NM_001354616.1:c.-511+108A>C	NP_001341545.1:n.-511+108A>C
NM_001354617.1:c.-603+108A>C	NP_001341546.1:n.-603+108A>C
NM_001354618.1:c.-727A>C	NP_001341547.1:n.-727A>C
NM_001354619.1:c.-851A>C	NP_001341548.1:n.-851A>C
NM_001354620.1:c.-169+108A>C	NP_001341549.1:n.-169+108A>C
NM_001354621.1:c.-820A>C	NP_001341550.1:n.-820A>C
NM_001354622.1:c.-933A>C	NP_001341551.1:n.-933A>C
NM_001354623.1:c.-842A>C	NP_001341552.1:n.-842A>C
NM_001354624.1:c.-711+108A>C	NP_001341553.1:n.-711+108A>C
NM_001354625.1:c.-609+108A>C	NP_001341554.1:n.-609+108A>C
NM_001354626.1:c.-706+108A>C	NP_001341555.1:n.-706+108A>C
NM_001354627.1:c.-830A>C	NP_001341556.1:n.-830A>C
NM_001354628.1:c.116+108A>C	NP_001341557.1:n.116+108A>C
NM_001354629.1:c.116+108A>C	NP_001341558.1:n.116+108A>C
NM_001354630.1:c.116+108A>C	NP_001341559.1:n.116+108A>C
XM_005265161.2:c.116+108A>C	XP_005265218.1:n.116+108A>C
XM_017006450.2:c.-696+108A>C	XP_016861939.1:n.-696+108A>C
NM_000249.4:c.116+108A>C MANE Select	NP_000240.1:n.116+108A>C
NM_001167617.3:c.-293A>C	NP_001161089.1:n.-293A>C
NM_001167618.3:c.-722A>C	NP_001161090.1:n.-722A>C
NM_001167619.3:c.-635A>C	NP_001161091.1:n.-635A>C
NM_001258271.2:c.116+108A>C	NP_001245200.1:n.116+108A>C
NM_001258273.2:c.-517+108A>C	NP_001245202.1:n.-517+108A>C
NM_001258274.3:c.-872A>C	NP_001245203.1:n.-872A>C
NM_001354615.2:c.-511+108A>C	NP_001341544.1:n.-511+108A>C
NM_001354616.2:c.-511+108A>C	NP_001341545.1:n.-511+108A>C
NM_001354617.2:c.-603+108A>C	NP_001341546.1:n.-603+108A>C
NM_001354618.2:c.-727A>C	NP_001341547.1:n.-727A>C
NM_001354619.2:c.-851A>C	NP_001341548.1:n.-851A>C
NM_001354620.2:c.-169+108A>C	NP_001341549.1:n.-169+108A>C
NM_001354621.2:c.-820A>C	NP_001341550.1:n.-820A>C
NM_001354622.2:c.-933A>C	NP_001341551.1:n.-933A>C
NM_001354623.2:c.-842A>C	NP_001341552.1:n.-842A>C
NM_001354624.2:c.-711+108A>C	NP_001341553.1:n.-711+108A>C
NM_001354625.2:c.-609+108A>C	NP_001341554.1:n.-609+108A>C
NM_001354626.2:c.-706+108A>C	NP_001341555.1:n.-706+108A>C
NM_001354627.2:c.-830A>C	NP_001341556.1:n.-830A>C
NM_001354628.2:c.116+108A>C	NP_001341557.1:n.116+108A>C
NM_001354629.2:c.116+108A>C	NP_001341558.1:n.116+108A>C
NM_001354630.2:c.116+108A>C	NP_001341559.1:n.116+108A>C