Canonical Allele Identifier: CA906755586

Gene: MLH1

Linked Data

• ClinVar Variation Id: 3023146
• ClinVar RCV Id: RCV003882332
• dbSNP Id: rs1417531095
• gnomAD v4: 3-36993486-T-C
• MyVariant Identifiers: chr3:g.37034977T>C (hg19) ; chr3:g.36993486T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36993486T>C , CM000665.2:g.36993486T>C	GRCh38
NC_000003.11:g.37034977T>C , CM000665.1:g.37034977T>C	GRCh37
NC_000003.10:g.37009981T>C	NCBI36
NG_007109.2:g.5137T>C , LRG_216:g.5137T>C
NG_008418.1:g.4819A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000413740.2:c.-62T>C	ENSP00000416476.2:n.-62T>C
ENST00000616768.6:c.-62T>C	ENSP00000480669.3:n.-62T>C
ENST00000673673.2:c.-62T>C	ENSP00000500979.2:n.-62T>C
ENST00000231790.6:c.-62T>C	ENSP00000231790.2:n.-62T>C
ENST00000536378.5:c.-694T>C	ENSP00000444286.2:n.-694T>C
NM_000249.3:c.-62T>C , LRG_216t1:c.-62T>C	NP_000240.1:n.-62T>C
NM_001258271.1:c.-62T>C	NP_001245200.1:n.-62T>C
NM_001258273.1:c.-694T>C	NP_001245202.1:n.-694T>C
XM_005265161.1:c.-62T>C	XP_005265218.1:n.-62T>C
NM_001167617.2:c.-578T>C	NP_001161089.1:n.-578T>C
NM_001167618.2:c.-1007T>C	NP_001161090.1:n.-1007T>C
NM_001167619.2:c.-920T>C	NP_001161091.1:n.-920T>C
NM_001258274.2:c.-1157T>C	NP_001245203.1:n.-1157T>C
NM_001354615.1:c.-688T>C	NP_001341544.1:n.-688T>C
NM_001354616.1:c.-688T>C	NP_001341545.1:n.-688T>C
NM_001354617.1:c.-780T>C	NP_001341546.1:n.-780T>C
NM_001354618.1:c.-1012T>C	NP_001341547.1:n.-1012T>C
NM_001354619.1:c.-1136T>C	NP_001341548.1:n.-1136T>C
NM_001354620.1:c.-346T>C	NP_001341549.1:n.-346T>C
NM_001354621.1:c.-1105T>C	NP_001341550.1:n.-1105T>C
NM_001354622.1:c.-1218T>C	NP_001341551.1:n.-1218T>C
NM_001354623.1:c.-1127T>C	NP_001341552.1:n.-1127T>C
NM_001354624.1:c.-888T>C	NP_001341553.1:n.-888T>C
NM_001354625.1:c.-786T>C	NP_001341554.1:n.-786T>C
NM_001354626.1:c.-883T>C	NP_001341555.1:n.-883T>C
NM_001354627.1:c.-1115T>C	NP_001341556.1:n.-1115T>C
NM_001354628.1:c.-62T>C	NP_001341557.1:n.-62T>C
NM_001354629.1:c.-62T>C	NP_001341558.1:n.-62T>C
NM_001354630.1:c.-62T>C	NP_001341559.1:n.-62T>C