Canonical Allele Identifier: CA005254

Gene: MLH1

Linked Data

• ClinVar Variation Id: 89719
• ClinVar RCV Id: RCV000075193 ; RCV002390216 ; RCV002281908 ; RCV002513800 ; RCV003451025
• dbSNP Id: rs267607825
• MyVariant Identifiers: chr3:g.37067499G>C (hg19) ; chr3:g.37026008G>C (hg38)
• PubMed: PMID:10200055 ; PMID:11306449 ; PMID:11507050 ; PMID:12362047

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.37026008G>C , CM000665.2:g.37026008G>C	GRCh38
NC_000003.11:g.37067499G>C , CM000665.1:g.37067499G>C	GRCh37
NC_000003.10:g.37042503G>C	NCBI36
NG_007109.2:g.37659G>C , LRG_216:g.37659G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.1409+1G>C	ENSP00000416476.2:n.1409+1G>C
ENST00000429117.6:c.1115+1G>C	ENSP00000407019.2:n.1115+1G>C
ENST00000450420.6:c.1409+1G>C	ENSP00000393006.2:n.1409+1G>C
ENST00000456676.7:c.1409+1G>C	ENSP00000416687.3:n.1409+1G>C
ENST00000458009.6:c.*310+1G>C	ENSP00000411066.2:n.*310+1G>C
ENST00000492474.6:c.686+1G>C	ENSP00000518393.1:n.686+1G>C
ENST00000616768.6:c.1409+1G>C	ENSP00000480669.3:n.1409+1G>C
ENST00000673673.2:c.1409+1G>C	ENSP00000500979.2:n.1409+1G>C
ENST00000231790.8:c.1409+1G>C MANE Select	ENSP00000231790.3:n.1409+1G>C
ENST00000413212.2:c.*327+1G>C	ENSP00000400844.2:n.*327+1G>C
ENST00000432299.6:c.*1241+1G>C	ENSP00000416783.1:n.*1241+1G>C
ENST00000441265.6:c.686+1G>C	ENSP00000398392.2:n.686+1G>C
ENST00000442249.6:n.1218G>C
ENST00000447829.6:c.*520+1G>C	ENSP00000399329.2:n.*520+1G>C
ENST00000539477.6:c.686+1G>C	ENSP00000443665.1:n.686+1G>C
ENST00000616768.5:c.446+1G>C	ENSP00000480669.2:n.446+1G>C
ENST00000673673.1:c.1362+1G>C
ENST00000673713.1:n.1534G>C
ENST00000673715.1:c.1409+1G>C	ENSP00000501301.1:n.1409+1G>C
ENST00000673889.1:n.791+1G>C
ENST00000673897.1:c.*1201+1G>C	ENSP00000501109.1:n.*1201+1G>C
ENST00000673899.1:c.678-2776G>C	ENSP00000501030.1:n.678-2776G>C
ENST00000673947.1:c.*1549+1G>C	ENSP00000501304.1:n.*1549+1G>C
ENST00000673972.1:c.*1287+1G>C	ENSP00000501281.1:n.*1287+1G>C
ENST00000673990.1:n.1300+1G>C
ENST00000674019.1:c.686+1G>C	ENSP00000501081.1:n.686+1G>C
ENST00000674107.1:n.1257+1G>C
ENST00000674111.1:c.1409+1G>C	ENSP00000501162.1:n.1409+1G>C
ENST00000231790.6:c.1409+1G>C	ENSP00000231790.2:n.1409+1G>C
ENST00000413212.1:c.484+1G>C
ENST00000413740.1:c.32+1G>C	ENSP00000416476.1:n.32+1G>C
ENST00000435176.5:c.1115+1G>C	ENSP00000402564.1:n.1115+1G>C
ENST00000450420.5:c.32+1G>C	ENSP00000393006.1:n.32+1G>C
ENST00000455445.6:c.686+1G>C	ENSP00000398272.2:n.686+1G>C
ENST00000456676.6:c.1384+1G>C
ENST00000458009.5:c.596+1G>C
ENST00000458205.6:c.686+1G>C	ENSP00000402667.2:n.686+1G>C
ENST00000536378.5:c.686+1G>C	ENSP00000444286.2:n.686+1G>C
ENST00000539477.5:c.686+1G>C	ENSP00000443665.1:n.686+1G>C
ENST00000616768.4:c.177+1G>C
NM_000249.3:c.1409+1G>C , LRG_216t1:c.1409+1G>C	NP_000240.1:n.1409+1G>C
NM_001167617.1:c.1115+1G>C	NP_001161089.1:n.1115+1G>C
NM_001167618.1:c.686+1G>C	NP_001161090.1:n.686+1G>C
NM_001167619.1:c.686+1G>C	NP_001161091.1:n.686+1G>C
NM_001258271.1:c.1409+1G>C	NP_001245200.1:n.1409+1G>C
NM_001258273.1:c.686+1G>C	NP_001245202.1:n.686+1G>C
NM_001258274.1:c.686+1G>C	NP_001245203.1:n.686+1G>C
XM_005265161.1:c.1202+1G>C	XP_005265218.1:n.1202+1G>C
XM_005265163.1:c.686+1G>C	XP_005265220.1:n.686+1G>C
XM_005265164.1:c.686+1G>C	XP_005265221.1:n.686+1G>C
XM_005265166.1:c.386+1G>C	XP_005265223.1:n.386+1G>C
XM_011533727.1:c.335+1G>C	XP_011532029.1:n.335+1G>C
NM_001167617.2:c.1115+1G>C	NP_001161089.1:n.1115+1G>C
NM_001167618.2:c.686+1G>C	NP_001161090.1:n.686+1G>C
NM_001167619.2:c.686+1G>C	NP_001161091.1:n.686+1G>C
NM_001258274.2:c.686+1G>C	NP_001245203.1:n.686+1G>C
NM_001354615.1:c.686+1G>C	NP_001341544.1:n.686+1G>C
NM_001354616.1:c.686+1G>C	NP_001341545.1:n.686+1G>C
NM_001354617.1:c.686+1G>C	NP_001341546.1:n.686+1G>C
NM_001354618.1:c.686+1G>C	NP_001341547.1:n.686+1G>C
NM_001354619.1:c.686+1G>C	NP_001341548.1:n.686+1G>C
NM_001354620.1:c.1115+1G>C	NP_001341549.1:n.1115+1G>C
NM_001354621.1:c.386+1G>C	NP_001341550.1:n.386+1G>C
NM_001354622.1:c.386+1G>C	NP_001341551.1:n.386+1G>C
NM_001354623.1:c.386+1G>C	NP_001341552.1:n.386+1G>C
NM_001354624.1:c.335+1G>C	NP_001341553.1:n.335+1G>C
NM_001354625.1:c.335+1G>C	NP_001341554.1:n.335+1G>C
NM_001354626.1:c.335+1G>C	NP_001341555.1:n.335+1G>C
NM_001354627.1:c.335+1G>C	NP_001341556.1:n.335+1G>C
NM_001354628.1:c.1409+1G>C	NP_001341557.1:n.1409+1G>C
NM_001354629.1:c.1310+1G>C	NP_001341558.1:n.1310+1G>C
NM_001354630.1:c.1409+1G>C	NP_001341559.1:n.1409+1G>C
XM_005265161.2:c.1202+1G>C	XP_005265218.1:n.1202+1G>C
XM_017006450.2:c.386+1G>C	XP_016861939.1:n.386+1G>C
NM_000249.4:c.1409+1G>C MANE Select	NP_000240.1:n.1409+1G>C
NM_001167617.3:c.1115+1G>C	NP_001161089.1:n.1115+1G>C
NM_001167618.3:c.686+1G>C	NP_001161090.1:n.686+1G>C
NM_001167619.3:c.686+1G>C	NP_001161091.1:n.686+1G>C
NM_001258271.2:c.1409+1G>C	NP_001245200.1:n.1409+1G>C
NM_001258273.2:c.686+1G>C	NP_001245202.1:n.686+1G>C
NM_001258274.3:c.686+1G>C	NP_001245203.1:n.686+1G>C
NM_001354615.2:c.686+1G>C	NP_001341544.1:n.686+1G>C
NM_001354616.2:c.686+1G>C	NP_001341545.1:n.686+1G>C
NM_001354617.2:c.686+1G>C	NP_001341546.1:n.686+1G>C
NM_001354618.2:c.686+1G>C	NP_001341547.1:n.686+1G>C
NM_001354619.2:c.686+1G>C	NP_001341548.1:n.686+1G>C
NM_001354620.2:c.1115+1G>C	NP_001341549.1:n.1115+1G>C
NM_001354621.2:c.386+1G>C	NP_001341550.1:n.386+1G>C
NM_001354622.2:c.386+1G>C	NP_001341551.1:n.386+1G>C
NM_001354623.2:c.386+1G>C	NP_001341552.1:n.386+1G>C
NM_001354624.2:c.335+1G>C	NP_001341553.1:n.335+1G>C
NM_001354625.2:c.335+1G>C	NP_001341554.1:n.335+1G>C
NM_001354626.2:c.335+1G>C	NP_001341555.1:n.335+1G>C
NM_001354627.2:c.335+1G>C	NP_001341556.1:n.335+1G>C
NM_001354628.2:c.1409+1G>C	NP_001341557.1:n.1409+1G>C
NM_001354629.2:c.1310+1G>C	NP_001341558.1:n.1310+1G>C
NM_001354630.2:c.1409+1G>C	NP_001341559.1:n.1409+1G>C