Canonical Allele Identifier: CA352068938

Gene: MLH1

Linked Data

• ClinVar Variation Id: 1049812
• ClinVar RCV Id: RCV001356389
• dbSNP Id: rs2085619841
• MyVariant Identifiers: chr3:g.37091999C>T (hg19) ; chr3:g.37050508C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.37050508C>T , CM000665.2:g.37050508C>T	GRCh38
NC_000003.11:g.37091999C>T , CM000665.1:g.37091999C>T	GRCh37
NC_000003.10:g.37067003C>T	NCBI36
NG_007109.2:g.62159C>T , LRG_216:g.62159C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.1690C>T	ENSP00000416476.2:p.Gln564Ter
ENST00000429117.6:c.1832C>T	ENSP00000407019.2:p.Pro611Leu
ENST00000450420.6:c.*18C>T	ENSP00000393006.2:n.*18C>T
ENST00000456676.7:c.1919C>T	ENSP00000416687.3:p.Pro640Leu
ENST00000492474.6:c.1403C>T	ENSP00000518393.1:p.Pro468Leu
ENST00000616768.6:c.2033C>T	ENSP00000480669.3:p.Pro678Leu
ENST00000673673.2:c.1961C>T	ENSP00000500979.2:p.Pro654Leu
ENST00000231790.8:c.2126C>T MANE Select	ENSP00000231790.3:p.Pro709Leu
ENST00000413212.2:c.*1044C>T	ENSP00000400844.2:n.*1044C>T
ENST00000432299.6:c.*1958C>T	ENSP00000416783.1:n.*1958C>T
ENST00000447829.6:c.*1237C>T	ENSP00000399329.2:n.*1237C>T
ENST00000539477.6:c.1403C>T	ENSP00000443665.1:p.Pro468Leu
ENST00000616768.5:c.1070C>T	ENSP00000480669.2:p.Pro357Leu
ENST00000673673.1:c.1914C>T
ENST00000673741.1:n.1160C>T
ENST00000673889.1:n.1508C>T
ENST00000673897.1:c.*1918C>T	ENSP00000501109.1:n.*1918C>T
ENST00000673899.1:c.1394C>T	ENSP00000501030.1:p.Pro465Leu
ENST00000673947.1:c.*2266C>T	ENSP00000501304.1:n.*2266C>T
ENST00000673972.1:c.*2004C>T	ENSP00000501281.1:n.*2004C>T
ENST00000674019.1:c.1403C>T	ENSP00000501081.1:p.Pro468Leu
ENST00000674111.1:c.*355C>T	ENSP00000501162.1:n.*355C>T
ENST00000674125.1:n.837C>T
ENST00000231790.6:c.2126C>T	ENSP00000231790.2:p.Pro709Leu
ENST00000413740.1:c.313C>T	ENSP00000416476.1:p.Gln105Ter
ENST00000435176.5:c.1832C>T	ENSP00000402564.1:p.Pro611Leu
ENST00000450420.5:c.204C>T	ENSP00000393006.1:n.204C>T
ENST00000455445.6:c.1403C>T	ENSP00000398272.2:p.Pro468Leu
ENST00000456676.6:c.1894C>T
ENST00000458205.6:c.1403C>T	ENSP00000402667.2:p.Pro468Leu
ENST00000536378.5:c.1403C>T	ENSP00000444286.2:p.Pro468Leu
ENST00000539477.5:c.1403C>T	ENSP00000443665.1:p.Pro468Leu
NM_000249.3:c.2126C>T , LRG_216t1:c.2126C>T	NP_000240.1:p.Pro709Leu
NM_001167617.1:c.1832C>T	NP_001161089.1:p.Pro611Leu
NM_001167618.1:c.1403C>T	NP_001161090.1:p.Pro468Leu
NM_001167619.1:c.1403C>T	NP_001161091.1:p.Pro468Leu
NM_001258271.1:c.1919C>T	NP_001245200.1:p.Pro640Leu
NM_001258273.1:c.1403C>T	NP_001245202.1:p.Pro468Leu
NM_001258274.1:c.1403C>T	NP_001245203.1:p.Pro468Leu
XM_005265161.1:c.1919C>T	XP_005265218.1:p.Pro640Leu
XM_005265163.1:c.1403C>T	XP_005265220.1:p.Pro468Leu
XM_005265164.1:c.1403C>T	XP_005265221.1:p.Pro468Leu
XM_005265166.1:c.1103C>T	XP_005265223.1:p.Pro368Leu
XM_011533727.1:c.1052C>T	XP_011532029.1:p.Pro351Leu
NM_001167617.2:c.1832C>T	NP_001161089.1:p.Pro611Leu
NM_001167618.2:c.1403C>T	NP_001161090.1:p.Pro468Leu
NM_001167619.2:c.1403C>T	NP_001161091.1:p.Pro468Leu
NM_001258274.2:c.1403C>T	NP_001245203.1:p.Pro468Leu
NM_001354615.1:c.1403C>T	NP_001341544.1:p.Pro468Leu
NM_001354616.1:c.1403C>T	NP_001341545.1:p.Pro468Leu
NM_001354617.1:c.1403C>T	NP_001341546.1:p.Pro468Leu
NM_001354618.1:c.1403C>T	NP_001341547.1:p.Pro468Leu
NM_001354619.1:c.1403C>T	NP_001341548.1:p.Pro468Leu
NM_001354620.1:c.1832C>T	NP_001341549.1:p.Pro611Leu
NM_001354621.1:c.1103C>T	NP_001341550.1:p.Pro368Leu
NM_001354622.1:c.1103C>T	NP_001341551.1:p.Pro368Leu
NM_001354623.1:c.1103C>T	NP_001341552.1:p.Pro368Leu
NM_001354624.1:c.1052C>T	NP_001341553.1:p.Pro351Leu
NM_001354625.1:c.1052C>T	NP_001341554.1:p.Pro351Leu
NM_001354626.1:c.1052C>T	NP_001341555.1:p.Pro351Leu
NM_001354627.1:c.1052C>T	NP_001341556.1:p.Pro351Leu
NM_001354628.1:c.2033C>T	NP_001341557.1:p.Pro678Leu
NM_001354629.1:c.2027C>T	NP_001341558.1:p.Pro676Leu
NM_001354630.1:c.1961C>T	NP_001341559.1:p.Pro654Leu
XM_005265161.2:c.1919C>T	XP_005265218.1:p.Pro640Leu
XM_017006450.2:c.1103C>T	XP_016861939.1:p.Pro368Leu
NM_000249.4:c.2126C>T MANE Select	NP_000240.1:p.Pro709Leu
NM_001167617.3:c.1832C>T	NP_001161089.1:p.Pro611Leu
NM_001167618.3:c.1403C>T	NP_001161090.1:p.Pro468Leu
NM_001167619.3:c.1403C>T	NP_001161091.1:p.Pro468Leu
NM_001258271.2:c.1919C>T	NP_001245200.1:p.Pro640Leu
NM_001258273.2:c.1403C>T	NP_001245202.1:p.Pro468Leu
NM_001258274.3:c.1403C>T	NP_001245203.1:p.Pro468Leu
NM_001354615.2:c.1403C>T	NP_001341544.1:p.Pro468Leu
NM_001354616.2:c.1403C>T	NP_001341545.1:p.Pro468Leu
NM_001354617.2:c.1403C>T	NP_001341546.1:p.Pro468Leu
NM_001354618.2:c.1403C>T	NP_001341547.1:p.Pro468Leu
NM_001354619.2:c.1403C>T	NP_001341548.1:p.Pro468Leu
NM_001354620.2:c.1832C>T	NP_001341549.1:p.Pro611Leu
NM_001354621.2:c.1103C>T	NP_001341550.1:p.Pro368Leu
NM_001354622.2:c.1103C>T	NP_001341551.1:p.Pro368Leu
NM_001354623.2:c.1103C>T	NP_001341552.1:p.Pro368Leu
NM_001354624.2:c.1052C>T	NP_001341553.1:p.Pro351Leu
NM_001354625.2:c.1052C>T	NP_001341554.1:p.Pro351Leu
NM_001354626.2:c.1052C>T	NP_001341555.1:p.Pro351Leu
NM_001354627.2:c.1052C>T	NP_001341556.1:p.Pro351Leu
NM_001354628.2:c.2033C>T	NP_001341557.1:p.Pro678Leu
NM_001354629.2:c.2027C>T	NP_001341558.1:p.Pro676Leu
NM_001354630.2:c.1961C>T	NP_001341559.1:p.Pro654Leu