Canonical Allele Identifier: CA72813613

Gene: MLH1

Linked Data

• ClinVar Variation Id: 820740
• ClinVar RCV Id: RCV001014496 ; RCV001065739
• dbSNP Id: rs587778986
• gnomAD v4: 3-37050544-A-C
• MyVariant Identifiers: chr3:g.37092035A>C (hg19) ; chr3:g.37050544A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.37050544A>C , CM000665.2:g.37050544A>C	GRCh38
NC_000003.11:g.37092035A>C , CM000665.1:g.37092035A>C	GRCh37
NC_000003.10:g.37067039A>C	NCBI36
NG_007109.2:g.62195A>C , LRG_216:g.62195A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000413740.2:c.1726A>C	ENSP00000416476.2:p.Ile576Leu
ENST00000429117.6:c.1868A>C	ENSP00000407019.2:p.Tyr623Ser
ENST00000456676.7:c.1955A>C	ENSP00000416687.3:p.Tyr652Ser
ENST00000492474.6:c.1439A>C	ENSP00000518393.1:p.Tyr480Ser
ENST00000616768.6:c.2069A>C	ENSP00000480669.3:p.Tyr690Ser
ENST00000673673.2:c.1997A>C	ENSP00000500979.2:p.Tyr666Ser
ENST00000231790.8:c.2162A>C MANE Select	ENSP00000231790.3:p.Tyr721Ser
ENST00000413212.2:c.*1080A>C	ENSP00000400844.2:n.*1080A>C
ENST00000432299.6:c.*1994A>C	ENSP00000416783.1:n.*1994A>C
ENST00000447829.6:c.*1273A>C	ENSP00000399329.2:n.*1273A>C
ENST00000539477.6:c.1439A>C	ENSP00000443665.1:p.Tyr480Ser
ENST00000616768.5:c.1106A>C	ENSP00000480669.2:p.Tyr369Ser
ENST00000673673.1:c.1950A>C
ENST00000673741.1:n.1196A>C
ENST00000673889.1:n.1544A>C
ENST00000673897.1:c.*1954A>C	ENSP00000501109.1:n.*1954A>C
ENST00000673899.1:c.1430A>C	ENSP00000501030.1:p.Tyr477Ser
ENST00000673947.1:c.*2302A>C	ENSP00000501304.1:n.*2302A>C
ENST00000673972.1:c.*2040A>C	ENSP00000501281.1:n.*2040A>C
ENST00000674019.1:c.1439A>C	ENSP00000501081.1:p.Tyr480Ser
ENST00000674111.1:c.*391A>C	ENSP00000501162.1:n.*391A>C
ENST00000674125.1:n.873A>C
ENST00000231790.6:c.2162A>C	ENSP00000231790.2:p.Tyr721Ser
ENST00000435176.5:c.1868A>C	ENSP00000402564.1:p.Tyr623Ser
ENST00000455445.6:c.1439A>C	ENSP00000398272.2:p.Tyr480Ser
ENST00000456676.6:c.1930A>C
ENST00000458205.6:c.1439A>C	ENSP00000402667.2:p.Tyr480Ser
ENST00000536378.5:c.1439A>C	ENSP00000444286.2:p.Tyr480Ser
ENST00000539477.5:c.1439A>C	ENSP00000443665.1:p.Tyr480Ser
NM_000249.3:c.2162A>C , LRG_216t1:c.2162A>C	NP_000240.1:p.Tyr721Ser
NM_001167617.1:c.1868A>C	NP_001161089.1:p.Tyr623Ser
NM_001167618.1:c.1439A>C	NP_001161090.1:p.Tyr480Ser
NM_001167619.1:c.1439A>C	NP_001161091.1:p.Tyr480Ser
NM_001258271.1:c.1955A>C	NP_001245200.1:p.Tyr652Ser
NM_001258273.1:c.1439A>C	NP_001245202.1:p.Tyr480Ser
NM_001258274.1:c.1439A>C	NP_001245203.1:p.Tyr480Ser
XM_005265161.1:c.1955A>C	XP_005265218.1:p.Tyr652Ser
XM_005265163.1:c.1439A>C	XP_005265220.1:p.Tyr480Ser
XM_005265164.1:c.1439A>C	XP_005265221.1:p.Tyr480Ser
XM_005265166.1:c.1139A>C	XP_005265223.1:p.Tyr380Ser
XM_011533727.1:c.1088A>C	XP_011532029.1:p.Tyr363Ser
NM_001167617.2:c.1868A>C	NP_001161089.1:p.Tyr623Ser
NM_001167618.2:c.1439A>C	NP_001161090.1:p.Tyr480Ser
NM_001167619.2:c.1439A>C	NP_001161091.1:p.Tyr480Ser
NM_001258274.2:c.1439A>C	NP_001245203.1:p.Tyr480Ser
NM_001354615.1:c.1439A>C	NP_001341544.1:p.Tyr480Ser
NM_001354616.1:c.1439A>C	NP_001341545.1:p.Tyr480Ser
NM_001354617.1:c.1439A>C	NP_001341546.1:p.Tyr480Ser
NM_001354618.1:c.1439A>C	NP_001341547.1:p.Tyr480Ser
NM_001354619.1:c.1439A>C	NP_001341548.1:p.Tyr480Ser
NM_001354620.1:c.1868A>C	NP_001341549.1:p.Tyr623Ser
NM_001354621.1:c.1139A>C	NP_001341550.1:p.Tyr380Ser
NM_001354622.1:c.1139A>C	NP_001341551.1:p.Tyr380Ser
NM_001354623.1:c.1139A>C	NP_001341552.1:p.Tyr380Ser
NM_001354624.1:c.1088A>C	NP_001341553.1:p.Tyr363Ser
NM_001354625.1:c.1088A>C	NP_001341554.1:p.Tyr363Ser
NM_001354626.1:c.1088A>C	NP_001341555.1:p.Tyr363Ser
NM_001354627.1:c.1088A>C	NP_001341556.1:p.Tyr363Ser
NM_001354628.1:c.2069A>C	NP_001341557.1:p.Tyr690Ser
NM_001354629.1:c.2063A>C	NP_001341558.1:p.Tyr688Ser
NM_001354630.1:c.1997A>C	NP_001341559.1:p.Tyr666Ser
XM_005265161.2:c.1955A>C	XP_005265218.1:p.Tyr652Ser
XM_017006450.2:c.1139A>C	XP_016861939.1:p.Tyr380Ser
NM_000249.4:c.2162A>C MANE Select	NP_000240.1:p.Tyr721Ser
NM_001167617.3:c.1868A>C	NP_001161089.1:p.Tyr623Ser
NM_001167618.3:c.1439A>C	NP_001161090.1:p.Tyr480Ser
NM_001167619.3:c.1439A>C	NP_001161091.1:p.Tyr480Ser
NM_001258271.2:c.1955A>C	NP_001245200.1:p.Tyr652Ser
NM_001258273.2:c.1439A>C	NP_001245202.1:p.Tyr480Ser
NM_001258274.3:c.1439A>C	NP_001245203.1:p.Tyr480Ser
NM_001354615.2:c.1439A>C	NP_001341544.1:p.Tyr480Ser
NM_001354616.2:c.1439A>C	NP_001341545.1:p.Tyr480Ser
NM_001354617.2:c.1439A>C	NP_001341546.1:p.Tyr480Ser
NM_001354618.2:c.1439A>C	NP_001341547.1:p.Tyr480Ser
NM_001354619.2:c.1439A>C	NP_001341548.1:p.Tyr480Ser
NM_001354620.2:c.1868A>C	NP_001341549.1:p.Tyr623Ser
NM_001354621.2:c.1139A>C	NP_001341550.1:p.Tyr380Ser
NM_001354622.2:c.1139A>C	NP_001341551.1:p.Tyr380Ser
NM_001354623.2:c.1139A>C	NP_001341552.1:p.Tyr380Ser
NM_001354624.2:c.1088A>C	NP_001341553.1:p.Tyr363Ser
NM_001354625.2:c.1088A>C	NP_001341554.1:p.Tyr363Ser
NM_001354626.2:c.1088A>C	NP_001341555.1:p.Tyr363Ser
NM_001354627.2:c.1088A>C	NP_001341556.1:p.Tyr363Ser
NM_001354628.2:c.2069A>C	NP_001341557.1:p.Tyr690Ser
NM_001354629.2:c.2063A>C	NP_001341558.1:p.Tyr688Ser
NM_001354630.2:c.1997A>C	NP_001341559.1:p.Tyr666Ser