Canonical Allele Identifier: CA1357864735

Gene: MLH1

Linked Data

• dbSNP Id: rs2080876150
• gnomAD v4: 3-36993473-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36993473C>A , CM000665.2:g.36993473C>A	GRCh38
NC_000003.11:g.37034964C>A , CM000665.1:g.37034964C>A	GRCh37
NC_000003.10:g.37009968C>A	NCBI36
NG_007109.2:g.5124C>A , LRG_216:g.5124C>A
NG_008418.1:g.4832G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.-75C>A	ENSP00000416476.2:n.-75C>A
ENST00000616768.6:c.-75C>A	ENSP00000480669.3:n.-75C>A
ENST00000673673.2:c.-75C>A	ENSP00000500979.2:n.-75C>A
ENST00000231790.6:c.-75C>A	ENSP00000231790.2:n.-75C>A
ENST00000536378.5:c.-707C>A	ENSP00000444286.2:n.-707C>A
NM_000249.3:c.-75C>A , LRG_216t1:c.-75C>A	NP_000240.1:n.-75C>A
NM_001258271.1:c.-75C>A	NP_001245200.1:n.-75C>A
NM_001258273.1:c.-707C>A	NP_001245202.1:n.-707C>A
XM_005265161.1:c.-75C>A	XP_005265218.1:n.-75C>A
NM_001167617.2:c.-591C>A	NP_001161089.1:n.-591C>A
NM_001167618.2:c.-1020C>A	NP_001161090.1:n.-1020C>A
NM_001167619.2:c.-933C>A	NP_001161091.1:n.-933C>A
NM_001258274.2:c.-1170C>A	NP_001245203.1:n.-1170C>A
NM_001354615.1:c.-701C>A	NP_001341544.1:n.-701C>A
NM_001354616.1:c.-701C>A	NP_001341545.1:n.-701C>A
NM_001354617.1:c.-793C>A	NP_001341546.1:n.-793C>A
NM_001354618.1:c.-1025C>A	NP_001341547.1:n.-1025C>A
NM_001354619.1:c.-1149C>A	NP_001341548.1:n.-1149C>A
NM_001354620.1:c.-359C>A	NP_001341549.1:n.-359C>A
NM_001354621.1:c.-1118C>A	NP_001341550.1:n.-1118C>A
NM_001354622.1:c.-1231C>A	NP_001341551.1:n.-1231C>A
NM_001354623.1:c.-1140C>A	NP_001341552.1:n.-1140C>A
NM_001354624.1:c.-901C>A	NP_001341553.1:n.-901C>A
NM_001354625.1:c.-799C>A	NP_001341554.1:n.-799C>A
NM_001354626.1:c.-896C>A	NP_001341555.1:n.-896C>A
NM_001354627.1:c.-1128C>A	NP_001341556.1:n.-1128C>A
NM_001354628.1:c.-75C>A	NP_001341557.1:n.-75C>A
NM_001354629.1:c.-75C>A	NP_001341558.1:n.-75C>A
NM_001354630.1:c.-75C>A	NP_001341559.1:n.-75C>A