Canonical Allele Identifier: CA007707

Gene: MLH1

Linked Data

• ClinVar Variation Id: 17097
• ClinVar RCV Id: RCV000018629 ; RCV000075432 ; RCV000162472 ; RCV001040524 ; RCV001267884 ; RCV001284501
• dbSNP Id: rs63750899
• gnomAD v4: 3-37048562-C-T
• MyVariant Identifiers: chr3:g.37090053C>T (hg19) ; chr3:g.37048562C>T (hg38)
• PubMed: PMID:12112654 ; PMID:15139004 ; PMID:16042583 ; PMID:16083711 ; PMID:16724012 ; PMID:17594722 ; PMID:21404117 ; PMID:22949387 ; PMID:23760103 ; PMID:24362816 ; PMID:25980754

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.37048562C>T , CM000665.2:g.37048562C>T	GRCh38
NC_000003.11:g.37090053C>T , CM000665.1:g.37090053C>T	GRCh37
NC_000003.10:g.37065057C>T	NCBI36
NG_007109.2:g.60213C>T , LRG_216:g.60213C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000413740.2:c.1668-1924C>T	ENSP00000416476.2:n.1668-1924C>T
ENST00000429117.6:c.1648C>T	ENSP00000407019.2:p.Pro550Ser
ENST00000450420.6:c.1559-1924C>T	ENSP00000393006.2:n.1559-1924C>T
ENST00000456676.7:c.1896+879C>T	ENSP00000416687.3:n.1896+879C>T
ENST00000492474.6:c.1219C>T	ENSP00000518393.1:p.Pro407Ser
ENST00000616768.6:c.1897-342C>T	ENSP00000480669.3:n.1897-342C>T
ENST00000673673.2:c.1777C>T	ENSP00000500979.2:p.Pro593Ser
ENST00000231790.8:c.1942C>T MANE Select	ENSP00000231790.3:p.Pro648Ser
ENST00000413212.2:c.*860C>T	ENSP00000400844.2:n.*860C>T
ENST00000432299.6:c.*1774C>T	ENSP00000416783.1:n.*1774C>T
ENST00000447829.6:c.*1053C>T	ENSP00000399329.2:n.*1053C>T
ENST00000539477.6:c.1219C>T	ENSP00000443665.1:p.Pro407Ser
ENST00000616768.5:c.934-342C>T	ENSP00000480669.2:n.934-342C>T
ENST00000673673.1:c.1730C>T
ENST00000673741.1:n.976C>T
ENST00000673889.1:n.1324C>T
ENST00000673897.1:c.*1734C>T	ENSP00000501109.1:n.*1734C>T
ENST00000673899.1:c.1210C>T	ENSP00000501030.1:p.Pro404Ser
ENST00000673947.1:c.*2082C>T	ENSP00000501304.1:n.*2082C>T
ENST00000673972.1:c.*1820C>T	ENSP00000501281.1:n.*1820C>T
ENST00000674019.1:c.1219C>T	ENSP00000501081.1:p.Pro407Ser
ENST00000674111.1:c.*171C>T	ENSP00000501162.1:n.*171C>T
ENST00000674125.1:n.653C>T
ENST00000231790.6:c.1942C>T	ENSP00000231790.2:p.Pro648Ser
ENST00000413740.1:c.291-1924C>T	ENSP00000416476.1:n.291-1924C>T
ENST00000435176.5:c.1648C>T	ENSP00000402564.1:p.Pro550Ser
ENST00000450420.5:c.182-1924C>T	ENSP00000393006.1:n.182-1924C>T
ENST00000455445.6:c.1219C>T	ENSP00000398272.2:p.Pro407Ser
ENST00000456676.6:c.1871+879C>T
ENST00000458205.6:c.1219C>T	ENSP00000402667.2:p.Pro407Ser
ENST00000536378.5:c.1219C>T	ENSP00000444286.2:p.Pro407Ser
ENST00000539477.5:c.1219C>T	ENSP00000443665.1:p.Pro407Ser
NM_000249.3:c.1942C>T , LRG_216t1:c.1942C>T	NP_000240.1:p.Pro648Ser
NM_001167617.1:c.1648C>T	NP_001161089.1:p.Pro550Ser
NM_001167618.1:c.1219C>T	NP_001161090.1:p.Pro407Ser
NM_001167619.1:c.1219C>T	NP_001161091.1:p.Pro407Ser
NM_001258271.1:c.1896+879C>T	NP_001245200.1:n.1896+879C>T
NM_001258273.1:c.1219C>T	NP_001245202.1:p.Pro407Ser
NM_001258274.1:c.1219C>T	NP_001245203.1:p.Pro407Ser
XM_005265161.1:c.1735C>T	XP_005265218.1:p.Pro579Ser
XM_005265163.1:c.1219C>T	XP_005265220.1:p.Pro407Ser
XM_005265164.1:c.1219C>T	XP_005265221.1:p.Pro407Ser
XM_005265166.1:c.919C>T	XP_005265223.1:p.Pro307Ser
XM_011533727.1:c.868C>T	XP_011532029.1:p.Pro290Ser
NM_001167617.2:c.1648C>T	NP_001161089.1:p.Pro550Ser
NM_001167618.2:c.1219C>T	NP_001161090.1:p.Pro407Ser
NM_001167619.2:c.1219C>T	NP_001161091.1:p.Pro407Ser
NM_001258274.2:c.1219C>T	NP_001245203.1:p.Pro407Ser
NM_001354615.1:c.1219C>T	NP_001341544.1:p.Pro407Ser
NM_001354616.1:c.1219C>T	NP_001341545.1:p.Pro407Ser
NM_001354617.1:c.1219C>T	NP_001341546.1:p.Pro407Ser
NM_001354618.1:c.1219C>T	NP_001341547.1:p.Pro407Ser
NM_001354619.1:c.1219C>T	NP_001341548.1:p.Pro407Ser
NM_001354620.1:c.1648C>T	NP_001341549.1:p.Pro550Ser
NM_001354621.1:c.919C>T	NP_001341550.1:p.Pro307Ser
NM_001354622.1:c.919C>T	NP_001341551.1:p.Pro307Ser
NM_001354623.1:c.919C>T	NP_001341552.1:p.Pro307Ser
NM_001354624.1:c.868C>T	NP_001341553.1:p.Pro290Ser
NM_001354625.1:c.868C>T	NP_001341554.1:p.Pro290Ser
NM_001354626.1:c.868C>T	NP_001341555.1:p.Pro290Ser
NM_001354627.1:c.868C>T	NP_001341556.1:p.Pro290Ser
NM_001354628.1:c.1897-342C>T	NP_001341557.1:n.1897-342C>T
NM_001354629.1:c.1843C>T	NP_001341558.1:p.Pro615Ser
NM_001354630.1:c.1777C>T	NP_001341559.1:p.Pro593Ser
XM_005265161.2:c.1735C>T	XP_005265218.1:p.Pro579Ser
XM_017006450.2:c.919C>T	XP_016861939.1:p.Pro307Ser
NM_000249.4:c.1942C>T MANE Select	NP_000240.1:p.Pro648Ser
NM_001167617.3:c.1648C>T	NP_001161089.1:p.Pro550Ser
NM_001167618.3:c.1219C>T	NP_001161090.1:p.Pro407Ser
NM_001167619.3:c.1219C>T	NP_001161091.1:p.Pro407Ser
NM_001258271.2:c.1896+879C>T	NP_001245200.1:n.1896+879C>T
NM_001258273.2:c.1219C>T	NP_001245202.1:p.Pro407Ser
NM_001258274.3:c.1219C>T	NP_001245203.1:p.Pro407Ser
NM_001354615.2:c.1219C>T	NP_001341544.1:p.Pro407Ser
NM_001354616.2:c.1219C>T	NP_001341545.1:p.Pro407Ser
NM_001354617.2:c.1219C>T	NP_001341546.1:p.Pro407Ser
NM_001354618.2:c.1219C>T	NP_001341547.1:p.Pro407Ser
NM_001354619.2:c.1219C>T	NP_001341548.1:p.Pro407Ser
NM_001354620.2:c.1648C>T	NP_001341549.1:p.Pro550Ser
NM_001354621.2:c.919C>T	NP_001341550.1:p.Pro307Ser
NM_001354622.2:c.919C>T	NP_001341551.1:p.Pro307Ser
NM_001354623.2:c.919C>T	NP_001341552.1:p.Pro307Ser
NM_001354624.2:c.868C>T	NP_001341553.1:p.Pro290Ser
NM_001354625.2:c.868C>T	NP_001341554.1:p.Pro290Ser
NM_001354626.2:c.868C>T	NP_001341555.1:p.Pro290Ser
NM_001354627.2:c.868C>T	NP_001341556.1:p.Pro290Ser
NM_001354628.2:c.1897-342C>T	NP_001341557.1:n.1897-342C>T
NM_001354629.2:c.1843C>T	NP_001341558.1:p.Pro615Ser
NM_001354630.2:c.1777C>T	NP_001341559.1:p.Pro593Ser