Canonical Allele Identifier: CA352060369

Gene: MLH1

Linked Data

• ClinVar Variation Id: 487011
• ClinVar RCV Id: RCV000565132 ; RCV003593994
• dbSNP Id: rs1389945622
• gnomAD v4: 3-36993560-G-C
• MyVariant Identifiers: chr3:g.37035051G>C (hg19) ; chr3:g.36993560G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36993560G>C , CM000665.2:g.36993560G>C	GRCh38
NC_000003.11:g.37035051G>C , CM000665.1:g.37035051G>C	GRCh37
NC_000003.10:g.37010055G>C	NCBI36
NG_007109.2:g.5211G>C , LRG_216:g.5211G>C
NG_008418.1:g.4745C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.13G>C	ENSP00000416476.2:p.Ala5Pro
ENST00000450420.6:c.13G>C	ENSP00000393006.2:p.Ala5Pro
ENST00000456676.7:c.13G>C	ENSP00000416687.3:p.Ala5Pro
ENST00000458009.6:c.13G>C	ENSP00000411066.2:p.Ala5Pro
ENST00000616768.6:c.13G>C	ENSP00000480669.3:p.Ala5Pro
ENST00000673673.2:c.13G>C	ENSP00000500979.2:p.Ala5Pro
ENST00000231790.8:c.13G>C MANE Select	ENSP00000231790.3:p.Ala5Pro
ENST00000432299.6:c.13G>C	ENSP00000416783.1:p.Ala5Pro
ENST00000442249.6:n.28G>C
ENST00000673713.1:n.44G>C
ENST00000673715.1:c.13G>C	ENSP00000501301.1:p.Ala5Pro
ENST00000673897.1:c.13G>C	ENSP00000501109.1:p.Ala5Pro
ENST00000673899.1:c.13G>C	ENSP00000501030.1:p.Ala5Pro
ENST00000673947.1:c.13G>C	ENSP00000501304.1:p.Ala5Pro
ENST00000673972.1:c.13G>C	ENSP00000501281.1:p.Ala5Pro
ENST00000674111.1:c.13G>C	ENSP00000501162.1:p.Ala5Pro
ENST00000231790.6:c.13G>C	ENSP00000231790.2:p.Ala5Pro
ENST00000432299.5:c.13G>C	ENSP00000416783.1:p.Ala5Pro
ENST00000442249.5:c.13G>C	ENSP00000387511.1:p.Ala5Pro
ENST00000454028.5:c.13G>C	ENSP00000392649.1:p.Ala5Pro
ENST00000457004.5:c.13G>C	ENSP00000407773.1:p.Ala5Pro
ENST00000536378.5:c.-620G>C	ENSP00000444286.2:n.-620G>C
NM_000249.3:c.13G>C , LRG_216t1:c.13G>C	NP_000240.1:p.Ala5Pro
NM_001258271.1:c.13G>C	NP_001245200.1:p.Ala5Pro
NM_001258273.1:c.-620G>C	NP_001245202.1:n.-620G>C
XM_005265161.1:c.13G>C	XP_005265218.1:p.Ala5Pro
XM_005265164.1:c.-706G>C	XP_005265221.1:n.-706G>C
NM_001167617.2:c.-504G>C	NP_001161089.1:n.-504G>C
NM_001167618.2:c.-933G>C	NP_001161090.1:n.-933G>C
NM_001167619.2:c.-846G>C	NP_001161091.1:n.-846G>C
NM_001258274.2:c.-1083G>C	NP_001245203.1:n.-1083G>C
NM_001354615.1:c.-614G>C	NP_001341544.1:n.-614G>C
NM_001354616.1:c.-614G>C	NP_001341545.1:n.-614G>C
NM_001354617.1:c.-706G>C	NP_001341546.1:n.-706G>C
NM_001354618.1:c.-938G>C	NP_001341547.1:n.-938G>C
NM_001354619.1:c.-1062G>C	NP_001341548.1:n.-1062G>C
NM_001354620.1:c.-272G>C	NP_001341549.1:n.-272G>C
NM_001354621.1:c.-1031G>C	NP_001341550.1:n.-1031G>C
NM_001354622.1:c.-1144G>C	NP_001341551.1:n.-1144G>C
NM_001354623.1:c.-1053G>C	NP_001341552.1:n.-1053G>C
NM_001354624.1:c.-814G>C	NP_001341553.1:n.-814G>C
NM_001354625.1:c.-712G>C	NP_001341554.1:n.-712G>C
NM_001354626.1:c.-809G>C	NP_001341555.1:n.-809G>C
NM_001354627.1:c.-1041G>C	NP_001341556.1:n.-1041G>C
NM_001354628.1:c.13G>C	NP_001341557.1:p.Ala5Pro
NM_001354629.1:c.13G>C	NP_001341558.1:p.Ala5Pro
NM_001354630.1:c.13G>C	NP_001341559.1:p.Ala5Pro
XM_005265161.2:c.13G>C	XP_005265218.1:p.Ala5Pro
XM_017006450.2:c.-799G>C	XP_016861939.1:n.-799G>C
NM_000249.4:c.13G>C MANE Select	NP_000240.1:p.Ala5Pro
NM_001167617.3:c.-504G>C	NP_001161089.1:n.-504G>C
NM_001167618.3:c.-933G>C	NP_001161090.1:n.-933G>C
NM_001167619.3:c.-846G>C	NP_001161091.1:n.-846G>C
NM_001258271.2:c.13G>C	NP_001245200.1:p.Ala5Pro
NM_001258273.2:c.-620G>C	NP_001245202.1:n.-620G>C
NM_001258274.3:c.-1083G>C	NP_001245203.1:n.-1083G>C
NM_001354615.2:c.-614G>C	NP_001341544.1:n.-614G>C
NM_001354616.2:c.-614G>C	NP_001341545.1:n.-614G>C
NM_001354617.2:c.-706G>C	NP_001341546.1:n.-706G>C
NM_001354618.2:c.-938G>C	NP_001341547.1:n.-938G>C
NM_001354619.2:c.-1062G>C	NP_001341548.1:n.-1062G>C
NM_001354620.2:c.-272G>C	NP_001341549.1:n.-272G>C
NM_001354621.2:c.-1031G>C	NP_001341550.1:n.-1031G>C
NM_001354622.2:c.-1144G>C	NP_001341551.1:n.-1144G>C
NM_001354623.2:c.-1053G>C	NP_001341552.1:n.-1053G>C
NM_001354624.2:c.-814G>C	NP_001341553.1:n.-814G>C
NM_001354625.2:c.-712G>C	NP_001341554.1:n.-712G>C
NM_001354626.2:c.-809G>C	NP_001341555.1:n.-809G>C
NM_001354627.2:c.-1041G>C	NP_001341556.1:n.-1041G>C
NM_001354628.2:c.13G>C	NP_001341557.1:p.Ala5Pro
NM_001354629.2:c.13G>C	NP_001341558.1:p.Ala5Pro
NM_001354630.2:c.13G>C	NP_001341559.1:p.Ala5Pro