Canonical Allele Identifier: CA647594418

Gene: MLH1

Linked Data

• gnomAD v4: 3-36993466-G-A
• COSMIC: COSN24387882

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36993466G>A , CM000665.2:g.36993466G>A	GRCh38
NC_000003.11:g.37034957G>A , CM000665.1:g.37034957G>A	GRCh37
NC_000003.10:g.37009961G>A	NCBI36
NG_007109.2:g.5117G>A , LRG_216:g.5117G>A
NG_008418.1:g.4839C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.-82G>A	ENSP00000416476.2:n.-82G>A
ENST00000673673.2:c.-82G>A	ENSP00000500979.2:n.-82G>A
ENST00000231790.6:c.-82G>A	ENSP00000231790.2:n.-82G>A
ENST00000536378.5:c.-714G>A	ENSP00000444286.2:n.-714G>A
NM_000249.3:c.-82G>A , LRG_216t1:c.-82G>A	NP_000240.1:n.-82G>A
NM_001258271.1:c.-82G>A	NP_001245200.1:n.-82G>A
NM_001258273.1:c.-714G>A	NP_001245202.1:n.-714G>A
XM_005265161.1:c.-82G>A	XP_005265218.1:n.-82G>A
NM_001167617.2:c.-598G>A	NP_001161089.1:n.-598G>A
NM_001167618.2:c.-1027G>A	NP_001161090.1:n.-1027G>A
NM_001167619.2:c.-940G>A	NP_001161091.1:n.-940G>A
NM_001258274.2:c.-1177G>A	NP_001245203.1:n.-1177G>A
NM_001354615.1:c.-708G>A	NP_001341544.1:n.-708G>A
NM_001354616.1:c.-708G>A	NP_001341545.1:n.-708G>A
NM_001354617.1:c.-800G>A	NP_001341546.1:n.-800G>A
NM_001354618.1:c.-1032G>A	NP_001341547.1:n.-1032G>A
NM_001354619.1:c.-1156G>A	NP_001341548.1:n.-1156G>A
NM_001354620.1:c.-366G>A	NP_001341549.1:n.-366G>A
NM_001354621.1:c.-1125G>A	NP_001341550.1:n.-1125G>A
NM_001354622.1:c.-1238G>A	NP_001341551.1:n.-1238G>A
NM_001354623.1:c.-1147G>A	NP_001341552.1:n.-1147G>A
NM_001354624.1:c.-908G>A	NP_001341553.1:n.-908G>A
NM_001354625.1:c.-806G>A	NP_001341554.1:n.-806G>A
NM_001354626.1:c.-903G>A	NP_001341555.1:n.-903G>A
NM_001354627.1:c.-1135G>A	NP_001341556.1:n.-1135G>A
NM_001354628.1:c.-82G>A	NP_001341557.1:n.-82G>A
NM_001354629.1:c.-82G>A	NP_001341558.1:n.-82G>A
NM_001354630.1:c.-82G>A	NP_001341559.1:n.-82G>A