Canonical Allele Identifier: CA004283

Gene: MLH1

Linked Data

• ClinVar Variation Id: 89587
• ClinVar RCV Id: RCV000075056 ; RCV000662467 ; RCV002055075 ; RCV002258788
• dbSNP Id: rs587778886
• gnomAD v4: 3-36993441-C-G
• MyVariant Identifiers: chr3:g.37034932C>G (hg19) ; chr3:g.36993441C>G (hg38)
• PubMed: PMID:17690979

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36993441C>G , CM000665.2:g.36993441C>G	GRCh38
NC_000003.11:g.37034932C>G , CM000665.1:g.37034932C>G	GRCh37
NC_000003.10:g.37009936C>G	NCBI36
NG_007109.2:g.5092C>G , LRG_216:g.5092C>G
NG_008418.1:g.4864G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.-107C>G	ENSP00000416476.2:n.-107C>G
ENST00000673673.2:c.-107C>G	ENSP00000500979.2:n.-107C>G
ENST00000231790.6:c.-107C>G	ENSP00000231790.2:n.-107C>G
ENST00000536378.5:c.-739C>G	ENSP00000444286.2:n.-739C>G
NM_000249.3:c.-107C>G , LRG_216t1:c.-107C>G	NP_000240.1:n.-107C>G
NM_001258271.1:c.-107C>G	NP_001245200.1:n.-107C>G
NM_001258273.1:c.-739C>G	NP_001245202.1:n.-739C>G
NM_001167617.2:c.-623C>G	NP_001161089.1:n.-623C>G
NM_001167618.2:c.-1052C>G	NP_001161090.1:n.-1052C>G
NM_001167619.2:c.-965C>G	NP_001161091.1:n.-965C>G
NM_001258274.2:c.-1202C>G	NP_001245203.1:n.-1202C>G
NM_001354615.1:c.-733C>G	NP_001341544.1:n.-733C>G
NM_001354616.1:c.-733C>G	NP_001341545.1:n.-733C>G
NM_001354617.1:c.-825C>G	NP_001341546.1:n.-825C>G
NM_001354618.1:c.-1057C>G	NP_001341547.1:n.-1057C>G
NM_001354619.1:c.-1181C>G	NP_001341548.1:n.-1181C>G
NM_001354620.1:c.-391C>G	NP_001341549.1:n.-391C>G
NM_001354621.1:c.-1150C>G	NP_001341550.1:n.-1150C>G
NM_001354622.1:c.-1263C>G	NP_001341551.1:n.-1263C>G
NM_001354623.1:c.-1172C>G	NP_001341552.1:n.-1172C>G
NM_001354624.1:c.-933C>G	NP_001341553.1:n.-933C>G
NM_001354625.1:c.-831C>G	NP_001341554.1:n.-831C>G
NM_001354626.1:c.-928C>G	NP_001341555.1:n.-928C>G
NM_001354627.1:c.-1160C>G	NP_001341556.1:n.-1160C>G
NM_001354628.1:c.-107C>G	NP_001341557.1:n.-107C>G
NM_001354629.1:c.-107C>G	NP_001341558.1:n.-107C>G
NM_001354630.1:c.-107C>G	NP_001341559.1:n.-107C>G