Canonical Allele Identifier: CA013465

Gene: MLH1

Linked Data

• ClinVar Variation Id: 17085
• ClinVar RCV Id: RCV000215121 ; RCV000018614 ; RCV000075954
• dbSNP Id: rs63750710
• MyVariant Identifiers: chr3:g.37061902A>C (hg19) ; chr3:g.37020411A>C (hg38)
• PubMed: PMID:2022152 ; PMID:9272156 ; PMID:10323887 ; PMID:11726306 ; PMID:16083711 ; PMID:16995940 ; PMID:17510385 ; PMID:17594722 ; PMID:21120944 ; PMID:21404117 ; PMID:22949387 ; PMID:24362816

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.37020411A>C , CM000665.2:g.37020411A>C	GRCh38
NC_000003.11:g.37061902A>C , CM000665.1:g.37061902A>C	GRCh37
NC_000003.10:g.37036906A>C	NCBI36
NG_007109.2:g.32062A>C , LRG_216:g.32062A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.986A>C	ENSP00000416476.2:p.His329Pro
ENST00000429117.6:c.692A>C	ENSP00000407019.2:p.His231Pro
ENST00000450420.6:c.986A>C	ENSP00000393006.2:p.His329Pro
ENST00000456676.7:c.986A>C	ENSP00000416687.3:p.His329Pro
ENST00000458009.6:c.884+2812A>C	ENSP00000411066.2:n.884+2812A>C
ENST00000492474.6:c.263A>C	ENSP00000518393.1:p.His88Pro
ENST00000616768.6:c.986A>C	ENSP00000480669.3:p.His329Pro
ENST00000673673.2:c.986A>C	ENSP00000500979.2:p.His329Pro
ENST00000231790.8:c.986A>C MANE Select	ENSP00000231790.3:p.His329Pro
ENST00000413212.2:c.68-5226A>C	ENSP00000400844.2:n.68-5226A>C
ENST00000432299.6:c.*871-5226A>C	ENSP00000416783.1:n.*871-5226A>C
ENST00000441265.6:c.263A>C	ENSP00000398392.2:p.His88Pro
ENST00000442249.6:n.794A>C
ENST00000447829.6:c.*97A>C	ENSP00000399329.2:n.*97A>C
ENST00000539477.6:c.263A>C	ENSP00000443665.1:p.His88Pro
ENST00000616768.5:c.23A>C	ENSP00000480669.2:p.His8Pro
ENST00000673673.1:c.939A>C
ENST00000673713.1:n.1017A>C
ENST00000673715.1:c.986A>C	ENSP00000501301.1:p.His329Pro
ENST00000673889.1:n.368A>C
ENST00000673897.1:c.*778A>C	ENSP00000501109.1:n.*778A>C
ENST00000673899.1:c.677+8312A>C	ENSP00000501030.1:n.677+8312A>C
ENST00000673947.1:c.*1126A>C	ENSP00000501304.1:n.*1126A>C
ENST00000673972.1:c.*864A>C	ENSP00000501281.1:n.*864A>C
ENST00000673990.1:n.877A>C
ENST00000674019.1:c.263A>C	ENSP00000501081.1:p.His88Pro
ENST00000674107.1:n.834A>C
ENST00000674111.1:c.986A>C	ENSP00000501162.1:p.His329Pro
ENST00000231790.6:c.986A>C	ENSP00000231790.2:p.His329Pro
ENST00000413212.1:c.114-5226A>C
ENST00000435176.5:c.692A>C	ENSP00000402564.1:p.His231Pro
ENST00000441265.5:c.263A>C	ENSP00000398392.1:p.His88Pro
ENST00000447829.5:c.273A>C
ENST00000455445.6:c.263A>C	ENSP00000398272.2:p.His88Pro
ENST00000456676.6:c.961A>C
ENST00000458009.5:c.225+2812A>C
ENST00000458205.6:c.263A>C	ENSP00000402667.2:p.His88Pro
ENST00000536378.5:c.263A>C	ENSP00000444286.2:p.His88Pro
ENST00000539477.5:c.263A>C	ENSP00000443665.1:p.His88Pro
NM_000249.3:c.986A>C , LRG_216t1:c.986A>C	NP_000240.1:p.His329Pro
NM_001167617.1:c.692A>C	NP_001161089.1:p.His231Pro
NM_001167618.1:c.263A>C	NP_001161090.1:p.His88Pro
NM_001167619.1:c.263A>C	NP_001161091.1:p.His88Pro
NM_001258271.1:c.986A>C	NP_001245200.1:p.His329Pro
NM_001258273.1:c.263A>C	NP_001245202.1:p.His88Pro
NM_001258274.1:c.263A>C	NP_001245203.1:p.His88Pro
XM_005265161.1:c.779A>C	XP_005265218.1:p.His260Pro
XM_005265163.1:c.263A>C	XP_005265220.1:p.His88Pro
XM_005265164.1:c.263A>C	XP_005265221.1:p.His88Pro
XM_005265166.1:c.-38A>C	XP_005265223.1:n.-38A>C
XM_011533727.1:c.-36-5226A>C	XP_011532029.1:n.-36-5226A>C
NM_001167617.2:c.692A>C	NP_001161089.1:p.His231Pro
NM_001167618.2:c.263A>C	NP_001161090.1:p.His88Pro
NM_001167619.2:c.263A>C	NP_001161091.1:p.His88Pro
NM_001258274.2:c.263A>C	NP_001245203.1:p.His88Pro
NM_001354615.1:c.263A>C	NP_001341544.1:p.His88Pro
NM_001354616.1:c.263A>C	NP_001341545.1:p.His88Pro
NM_001354617.1:c.263A>C	NP_001341546.1:p.His88Pro
NM_001354618.1:c.263A>C	NP_001341547.1:p.His88Pro
NM_001354619.1:c.263A>C	NP_001341548.1:p.His88Pro
NM_001354620.1:c.692A>C	NP_001341549.1:p.His231Pro
NM_001354621.1:c.-38A>C	NP_001341550.1:n.-38A>C
NM_001354622.1:c.-38A>C	NP_001341551.1:n.-38A>C
NM_001354623.1:c.-38A>C	NP_001341552.1:n.-38A>C
NM_001354624.1:c.-36-5226A>C	NP_001341553.1:n.-36-5226A>C
NM_001354625.1:c.-36-5226A>C	NP_001341554.1:n.-36-5226A>C
NM_001354626.1:c.-36-5226A>C	NP_001341555.1:n.-36-5226A>C
NM_001354627.1:c.-36-5226A>C	NP_001341556.1:n.-36-5226A>C
NM_001354628.1:c.986A>C	NP_001341557.1:p.His329Pro
NM_001354629.1:c.887A>C	NP_001341558.1:p.His296Pro
NM_001354630.1:c.986A>C	NP_001341559.1:p.His329Pro
XM_005265161.2:c.779A>C	XP_005265218.1:p.His260Pro
XM_017006450.2:c.-38A>C	XP_016861939.1:n.-38A>C
NM_000249.4:c.986A>C MANE Select	NP_000240.1:p.His329Pro
NM_001167617.3:c.692A>C	NP_001161089.1:p.His231Pro
NM_001167618.3:c.263A>C	NP_001161090.1:p.His88Pro
NM_001167619.3:c.263A>C	NP_001161091.1:p.His88Pro
NM_001258271.2:c.986A>C	NP_001245200.1:p.His329Pro
NM_001258273.2:c.263A>C	NP_001245202.1:p.His88Pro
NM_001258274.3:c.263A>C	NP_001245203.1:p.His88Pro
NM_001354615.2:c.263A>C	NP_001341544.1:p.His88Pro
NM_001354616.2:c.263A>C	NP_001341545.1:p.His88Pro
NM_001354617.2:c.263A>C	NP_001341546.1:p.His88Pro
NM_001354618.2:c.263A>C	NP_001341547.1:p.His88Pro
NM_001354619.2:c.263A>C	NP_001341548.1:p.His88Pro
NM_001354620.2:c.692A>C	NP_001341549.1:p.His231Pro
NM_001354621.2:c.-38A>C	NP_001341550.1:n.-38A>C
NM_001354622.2:c.-38A>C	NP_001341551.1:n.-38A>C
NM_001354623.2:c.-38A>C	NP_001341552.1:n.-38A>C
NM_001354624.2:c.-36-5226A>C	NP_001341553.1:n.-36-5226A>C
NM_001354625.2:c.-36-5226A>C	NP_001341554.1:n.-36-5226A>C
NM_001354626.2:c.-36-5226A>C	NP_001341555.1:n.-36-5226A>C
NM_001354627.2:c.-36-5226A>C	NP_001341556.1:n.-36-5226A>C
NM_001354628.2:c.986A>C	NP_001341557.1:p.His329Pro
NM_001354629.2:c.887A>C	NP_001341558.1:p.His296Pro
NM_001354630.2:c.986A>C	NP_001341559.1:p.His329Pro