Canonical Allele Identifier: CA006570
Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 89854
ClinVar RCV Id: RCV000075328 RCV001012888 RCV001201385
dbSNP Id: rs267607850
MyVariant Identifiers: chr3:g.37083827G>A (hg19) chr3:g.37042336G>A (hg38)
PubMed: PMID:18561205
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.37042336G>A , CM000665.2:g.37042336G>A GRCh38
NC_000003.11:g.37083827G>A , CM000665.1:g.37083827G>A GRCh37
NC_000003.10:g.37058831G>A NCBI36
NG_007109.2:g.53987G>A , LRG_216:g.53987G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000413740.2:c.1667+2042G>A ENSP00000416476.2:n.1667+2042G>A
ENST00000429117.6:c.1437+5G>A ENSP00000407019.2:n.1437+5G>A
ENST00000450420.6:c.1559-8150G>A ENSP00000393006.2:n.1559-8150G>A
ENST00000456676.7:c.1731+5G>A ENSP00000416687.3:n.1731+5G>A
ENST00000492474.6:c.1008+5G>A ENSP00000518393.1:n.1008+5G>A
ENST00000616768.6:c.1731+5G>A ENSP00000480669.3:n.1731+5G>A
ENST00000673673.2:c.1731+5G>A ENSP00000500979.2:n.1731+5G>A
ENST00000231790.8:c.1731+5G>A MANE Select ENSP00000231790.3:n.1731+5G>A
ENST00000413212.2:c.*649+5G>A ENSP00000400844.2:n.*649+5G>A
ENST00000432299.6:c.*1563+5G>A ENSP00000416783.1:n.*1563+5G>A
ENST00000441265.6:c.944+2042G>A ENSP00000398392.2:n.944+2042G>A
ENST00000447829.6:c.*842+5G>A ENSP00000399329.2:n.*842+5G>A
ENST00000539477.6:c.1008+5G>A ENSP00000443665.1:n.1008+5G>A
ENST00000616768.5:c.768+5G>A ENSP00000480669.2:n.768+5G>A
ENST00000673673.1:c.1684+5G>A
ENST00000673715.1:c.1731+5G>A ENSP00000501301.1:n.1731+5G>A
ENST00000673889.1:n.1113+5G>A
ENST00000673897.1:c.*1523+5G>A ENSP00000501109.1:n.*1523+5G>A
ENST00000673899.1:c.999+5G>A ENSP00000501030.1:n.999+5G>A
ENST00000673947.1:c.*1871+5G>A ENSP00000501304.1:n.*1871+5G>A
ENST00000673972.1:c.*1609+5G>A ENSP00000501281.1:n.*1609+5G>A
ENST00000673990.1:n.1622+5G>A
ENST00000674019.1:c.1008+5G>A ENSP00000501081.1:n.1008+5G>A
ENST00000674111.1:c.1667+2042G>A ENSP00000501162.1:n.1667+2042G>A
ENST00000674125.1:n.442+5G>A
ENST00000231790.6:c.1731+5G>A ENSP00000231790.2:n.1731+5G>A
ENST00000413740.1:c.290+2042G>A ENSP00000416476.1:n.290+2042G>A
ENST00000435176.5:c.1437+5G>A ENSP00000402564.1:n.1437+5G>A
ENST00000450420.5:c.182-8150G>A ENSP00000393006.1:n.182-8150G>A
ENST00000455445.6:c.1008+5G>A ENSP00000398272.2:n.1008+5G>A
ENST00000456676.6:c.1706+5G>A
ENST00000458205.6:c.1008+5G>A ENSP00000402667.2:n.1008+5G>A
ENST00000536378.5:c.1008+5G>A ENSP00000444286.2:n.1008+5G>A
ENST00000539477.5:c.1008+5G>A ENSP00000443665.1:n.1008+5G>A
ENST00000616768.4:c.499+5G>A
NM_000249.3:c.1731+5G>A , LRG_216t1:c.1731+5G>A NP_000240.1:n.1731+5G>A
NM_001167617.1:c.1437+5G>A NP_001161089.1:n.1437+5G>A
NM_001167618.1:c.1008+5G>A NP_001161090.1:n.1008+5G>A
NM_001167619.1:c.1008+5G>A NP_001161091.1:n.1008+5G>A
NM_001258271.1:c.1731+5G>A NP_001245200.1:n.1731+5G>A
NM_001258273.1:c.1008+5G>A NP_001245202.1:n.1008+5G>A
NM_001258274.1:c.1008+5G>A NP_001245203.1:n.1008+5G>A
XM_005265161.1:c.1524+5G>A XP_005265218.1:n.1524+5G>A
XM_005265163.1:c.1008+5G>A XP_005265220.1:n.1008+5G>A
XM_005265164.1:c.1008+5G>A XP_005265221.1:n.1008+5G>A
XM_005265166.1:c.708+5G>A XP_005265223.1:n.708+5G>A
XM_011533727.1:c.657+5G>A XP_011532029.1:n.657+5G>A
NM_001167617.2:c.1437+5G>A NP_001161089.1:n.1437+5G>A
NM_001167618.2:c.1008+5G>A NP_001161090.1:n.1008+5G>A
NM_001167619.2:c.1008+5G>A NP_001161091.1:n.1008+5G>A
NM_001258274.2:c.1008+5G>A NP_001245203.1:n.1008+5G>A
NM_001354615.1:c.1008+5G>A NP_001341544.1:n.1008+5G>A
NM_001354616.1:c.1008+5G>A NP_001341545.1:n.1008+5G>A
NM_001354617.1:c.1008+5G>A NP_001341546.1:n.1008+5G>A
NM_001354618.1:c.1008+5G>A NP_001341547.1:n.1008+5G>A
NM_001354619.1:c.1008+5G>A NP_001341548.1:n.1008+5G>A
NM_001354620.1:c.1437+5G>A NP_001341549.1:n.1437+5G>A
NM_001354621.1:c.708+5G>A NP_001341550.1:n.708+5G>A
NM_001354622.1:c.708+5G>A NP_001341551.1:n.708+5G>A
NM_001354623.1:c.708+5G>A NP_001341552.1:n.708+5G>A
NM_001354624.1:c.657+5G>A NP_001341553.1:n.657+5G>A
NM_001354625.1:c.657+5G>A NP_001341554.1:n.657+5G>A
NM_001354626.1:c.657+5G>A NP_001341555.1:n.657+5G>A
NM_001354627.1:c.657+5G>A NP_001341556.1:n.657+5G>A
NM_001354628.1:c.1731+5G>A NP_001341557.1:n.1731+5G>A
NM_001354629.1:c.1632+5G>A NP_001341558.1:n.1632+5G>A
NM_001354630.1:c.1731+5G>A NP_001341559.1:n.1731+5G>A
XM_005265161.2:c.1524+5G>A XP_005265218.1:n.1524+5G>A
XM_017006450.2:c.708+5G>A XP_016861939.1:n.708+5G>A
NM_000249.4:c.1731+5G>A MANE Select NP_000240.1:n.1731+5G>A
NM_001167617.3:c.1437+5G>A NP_001161089.1:n.1437+5G>A
NM_001167618.3:c.1008+5G>A NP_001161090.1:n.1008+5G>A
NM_001167619.3:c.1008+5G>A NP_001161091.1:n.1008+5G>A
NM_001258271.2:c.1731+5G>A NP_001245200.1:n.1731+5G>A
NM_001258273.2:c.1008+5G>A NP_001245202.1:n.1008+5G>A
NM_001258274.3:c.1008+5G>A NP_001245203.1:n.1008+5G>A
NM_001354615.2:c.1008+5G>A NP_001341544.1:n.1008+5G>A
NM_001354616.2:c.1008+5G>A NP_001341545.1:n.1008+5G>A
NM_001354617.2:c.1008+5G>A NP_001341546.1:n.1008+5G>A
NM_001354618.2:c.1008+5G>A NP_001341547.1:n.1008+5G>A
NM_001354619.2:c.1008+5G>A NP_001341548.1:n.1008+5G>A
NM_001354620.2:c.1437+5G>A NP_001341549.1:n.1437+5G>A
NM_001354621.2:c.708+5G>A NP_001341550.1:n.708+5G>A
NM_001354622.2:c.708+5G>A NP_001341551.1:n.708+5G>A
NM_001354623.2:c.708+5G>A NP_001341552.1:n.708+5G>A
NM_001354624.2:c.657+5G>A NP_001341553.1:n.657+5G>A
NM_001354625.2:c.657+5G>A NP_001341554.1:n.657+5G>A
NM_001354626.2:c.657+5G>A NP_001341555.1:n.657+5G>A
NM_001354627.2:c.657+5G>A NP_001341556.1:n.657+5G>A
NM_001354628.2:c.1731+5G>A NP_001341557.1:n.1731+5G>A
NM_001354629.2:c.1632+5G>A NP_001341558.1:n.1632+5G>A
NM_001354630.2:c.1731+5G>A NP_001341559.1:n.1731+5G>A
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