Canonical Allele Identifier: CA034867

Gene: MLH1

Linked Data

• ClinVar Variation Id: 234367
• ClinVar RCV Id: RCV000217621 ; RCV001455878 ; RCV002256127 ; RCV003891797
• dbSNP Id: rs201247839
• ExAC: 3:37035006 T / G
• gnomAD v2: 3-37035006-T-G
• gnomAD v3: 3-36993515-T-G
• gnomAD v4: 3-36993515-T-G
• MyVariant Identifiers: chr3:g.37035006T>G (hg19) ; chr3:g.36993515T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36993515T>G , CM000665.2:g.36993515T>G	GRCh38
NC_000003.11:g.37035006T>G , CM000665.1:g.37035006T>G	GRCh37
NC_000003.10:g.37010010T>G	NCBI36
NG_007109.2:g.5166T>G , LRG_216:g.5166T>G
NG_008418.1:g.4790A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.-33T>G	ENSP00000416476.2:n.-33T>G
ENST00000616768.6:c.-33T>G	ENSP00000480669.3:n.-33T>G
ENST00000673673.2:c.-33T>G	ENSP00000500979.2:n.-33T>G
ENST00000673899.1:c.-33T>G	ENSP00000501030.1:n.-33T>G
ENST00000673972.1:c.-33T>G	ENSP00000501281.1:n.-33T>G
ENST00000674111.1:c.-33T>G	ENSP00000501162.1:n.-33T>G
ENST00000231790.6:c.-33T>G	ENSP00000231790.2:n.-33T>G
ENST00000536378.5:c.-665T>G	ENSP00000444286.2:n.-665T>G
NM_000249.3:c.-33T>G , LRG_216t1:c.-33T>G	NP_000240.1:n.-33T>G
NM_001258271.1:c.-33T>G	NP_001245200.1:n.-33T>G
NM_001258273.1:c.-665T>G	NP_001245202.1:n.-665T>G
XM_005265161.1:c.-33T>G	XP_005265218.1:n.-33T>G
XM_005265164.1:c.-751T>G	XP_005265221.1:n.-751T>G
NM_001167617.2:c.-549T>G	NP_001161089.1:n.-549T>G
NM_001167618.2:c.-978T>G	NP_001161090.1:n.-978T>G
NM_001167619.2:c.-891T>G	NP_001161091.1:n.-891T>G
NM_001258274.2:c.-1128T>G	NP_001245203.1:n.-1128T>G
NM_001354615.1:c.-659T>G	NP_001341544.1:n.-659T>G
NM_001354616.1:c.-659T>G	NP_001341545.1:n.-659T>G
NM_001354617.1:c.-751T>G	NP_001341546.1:n.-751T>G
NM_001354618.1:c.-983T>G	NP_001341547.1:n.-983T>G
NM_001354619.1:c.-1107T>G	NP_001341548.1:n.-1107T>G
NM_001354620.1:c.-317T>G	NP_001341549.1:n.-317T>G
NM_001354621.1:c.-1076T>G	NP_001341550.1:n.-1076T>G
NM_001354622.1:c.-1189T>G	NP_001341551.1:n.-1189T>G
NM_001354623.1:c.-1098T>G	NP_001341552.1:n.-1098T>G
NM_001354624.1:c.-859T>G	NP_001341553.1:n.-859T>G
NM_001354625.1:c.-757T>G	NP_001341554.1:n.-757T>G
NM_001354626.1:c.-854T>G	NP_001341555.1:n.-854T>G
NM_001354627.1:c.-1086T>G	NP_001341556.1:n.-1086T>G
NM_001354628.1:c.-33T>G	NP_001341557.1:n.-33T>G
NM_001354629.1:c.-33T>G	NP_001341558.1:n.-33T>G
NM_001354630.1:c.-33T>G	NP_001341559.1:n.-33T>G
XM_005265161.2:c.-33T>G	XP_005265218.1:n.-33T>G
XM_017006450.2:c.-844T>G	XP_016861939.1:n.-844T>G