Canonical Allele Identifier: CA1046889217

Gene: MLH1

Linked Data

• dbSNP Id: rs2080867865
• gnomAD v3: 3-36993367-C-G
• gnomAD v4: 3-36993367-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36993367C>G , CM000665.2:g.36993367C>G	GRCh38
NC_000003.11:g.37034858C>G , CM000665.1:g.37034858C>G	GRCh37
NC_000003.10:g.37009862C>G	NCBI36
NG_007109.2:g.5018C>G , LRG_216:g.5018C>G
NG_008418.1:g.4938G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.-181C>G	ENSP00000416476.2:n.-181C>G
ENST00000673673.2:c.-181C>G	ENSP00000500979.2:n.-181C>G
ENST00000231790.6:c.-181C>G	ENSP00000231790.2:n.-181C>G
ENST00000536378.5:c.-813C>G	ENSP00000444286.2:n.-813C>G
NM_000249.3:c.-181C>G , LRG_216t1:c.-181C>G	NP_000240.1:n.-181C>G
NM_001258271.1:c.-181C>G	NP_001245200.1:n.-181C>G
NM_001258273.1:c.-813C>G	NP_001245202.1:n.-813C>G
NM_001167617.2:c.-697C>G	NP_001161089.1:n.-697C>G
NM_001167618.2:c.-1126C>G	NP_001161090.1:n.-1126C>G
NM_001167619.2:c.-1039C>G	NP_001161091.1:n.-1039C>G
NM_001258274.2:c.-1276C>G	NP_001245203.1:n.-1276C>G
NM_001354615.1:c.-807C>G	NP_001341544.1:n.-807C>G
NM_001354616.1:c.-807C>G	NP_001341545.1:n.-807C>G
NM_001354617.1:c.-899C>G	NP_001341546.1:n.-899C>G
NM_001354618.1:c.-1131C>G	NP_001341547.1:n.-1131C>G
NM_001354619.1:c.-1255C>G	NP_001341548.1:n.-1255C>G
NM_001354620.1:c.-465C>G	NP_001341549.1:n.-465C>G
NM_001354621.1:c.-1224C>G	NP_001341550.1:n.-1224C>G
NM_001354622.1:c.-1337C>G	NP_001341551.1:n.-1337C>G
NM_001354623.1:c.-1246C>G	NP_001341552.1:n.-1246C>G
NM_001354624.1:c.-1007C>G	NP_001341553.1:n.-1007C>G
NM_001354625.1:c.-905C>G	NP_001341554.1:n.-905C>G
NM_001354626.1:c.-1002C>G	NP_001341555.1:n.-1002C>G
NM_001354627.1:c.-1234C>G	NP_001341556.1:n.-1234C>G
NM_001354628.1:c.-181C>G	NP_001341557.1:n.-181C>G
NM_001354629.1:c.-181C>G	NP_001341558.1:n.-181C>G
NM_001354630.1:c.-181C>G	NP_001341559.1:n.-181C>G