Canonical Allele Identifier: CA433321828

Gene: MLH1

Linked Data

• dbSNP Id: rs2125885372
• MyVariant Identifiers: chr3:g.37067409G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.37025918G>T , CM000665.2:g.37025918G>T	GRCh38
NC_000003.11:g.37067409G>T , CM000665.1:g.37067409G>T	GRCh37
NC_000003.10:g.37042413G>T	NCBI36
NG_007109.2:g.37569G>T , LRG_216:g.37569G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.1320G>T	ENSP00000416476.2:p.Val440=
ENST00000429117.6:c.1026G>T	ENSP00000407019.2:p.Val342=
ENST00000450420.6:c.1320G>T	ENSP00000393006.2:p.Val440=
ENST00000456676.7:c.1320G>T	ENSP00000416687.3:p.Val440=
ENST00000458009.6:c.*221G>T	ENSP00000411066.2:n.*221G>T
ENST00000492474.6:c.597G>T	ENSP00000518393.1:p.Val199=
ENST00000616768.6:c.1320G>T	ENSP00000480669.3:p.Val440=
ENST00000673673.2:c.1320G>T	ENSP00000500979.2:p.Val440=
ENST00000231790.8:c.1320G>T MANE Select	ENSP00000231790.3:p.Val440=
ENST00000413212.2:c.*238G>T	ENSP00000400844.2:n.*238G>T
ENST00000432299.6:c.*1152G>T	ENSP00000416783.1:n.*1152G>T
ENST00000441265.6:c.597G>T	ENSP00000398392.2:p.Val199=
ENST00000442249.6:n.1128G>T
ENST00000447829.6:c.*431G>T	ENSP00000399329.2:n.*431G>T
ENST00000539477.6:c.597G>T	ENSP00000443665.1:p.Val199=
ENST00000616768.5:c.357G>T	ENSP00000480669.2:p.Val119=
ENST00000673673.1:c.1273G>T
ENST00000673713.1:n.1444G>T
ENST00000673715.1:c.1320G>T	ENSP00000501301.1:p.Val440=
ENST00000673889.1:n.702G>T
ENST00000673897.1:c.*1112G>T	ENSP00000501109.1:n.*1112G>T
ENST00000673899.1:c.678-2866G>T	ENSP00000501030.1:n.678-2866G>T
ENST00000673947.1:c.*1460G>T	ENSP00000501304.1:n.*1460G>T
ENST00000673972.1:c.*1198G>T	ENSP00000501281.1:n.*1198G>T
ENST00000673990.1:n.1211G>T
ENST00000674019.1:c.597G>T	ENSP00000501081.1:p.Val199=
ENST00000674107.1:n.1168G>T
ENST00000674111.1:c.1320G>T	ENSP00000501162.1:p.Val440=
ENST00000231790.6:c.1320G>T	ENSP00000231790.2:p.Val440=
ENST00000413212.1:c.395G>T
ENST00000435176.5:c.1026G>T	ENSP00000402564.1:p.Val342=
ENST00000447829.5:c.607G>T
ENST00000455445.6:c.597G>T	ENSP00000398272.2:p.Val199=
ENST00000456676.6:c.1295G>T
ENST00000458009.5:c.507G>T
ENST00000458205.6:c.597G>T	ENSP00000402667.2:p.Val199=
ENST00000536378.5:c.597G>T	ENSP00000444286.2:p.Val199=
ENST00000539477.5:c.597G>T	ENSP00000443665.1:p.Val199=
ENST00000616768.4:c.88G>T
NM_000249.3:c.1320G>T , LRG_216t1:c.1320G>T	NP_000240.1:p.Val440=
NM_001167617.1:c.1026G>T	NP_001161089.1:p.Val342=
NM_001167618.1:c.597G>T	NP_001161090.1:p.Val199=
NM_001167619.1:c.597G>T	NP_001161091.1:p.Val199=
NM_001258271.1:c.1320G>T	NP_001245200.1:p.Val440=
NM_001258273.1:c.597G>T	NP_001245202.1:p.Val199=
NM_001258274.1:c.597G>T	NP_001245203.1:p.Val199=
XM_005265161.1:c.1113G>T	XP_005265218.1:p.Val371=
XM_005265163.1:c.597G>T	XP_005265220.1:p.Val199=
XM_005265164.1:c.597G>T	XP_005265221.1:p.Val199=
XM_005265166.1:c.297G>T	XP_005265223.1:p.Val99=
XM_011533727.1:c.246G>T	XP_011532029.1:p.Val82=
NM_001167617.2:c.1026G>T	NP_001161089.1:p.Val342=
NM_001167618.2:c.597G>T	NP_001161090.1:p.Val199=
NM_001167619.2:c.597G>T	NP_001161091.1:p.Val199=
NM_001258274.2:c.597G>T	NP_001245203.1:p.Val199=
NM_001354615.1:c.597G>T	NP_001341544.1:p.Val199=
NM_001354616.1:c.597G>T	NP_001341545.1:p.Val199=
NM_001354617.1:c.597G>T	NP_001341546.1:p.Val199=
NM_001354618.1:c.597G>T	NP_001341547.1:p.Val199=
NM_001354619.1:c.597G>T	NP_001341548.1:p.Val199=
NM_001354620.1:c.1026G>T	NP_001341549.1:p.Val342=
NM_001354621.1:c.297G>T	NP_001341550.1:p.Val99=
NM_001354622.1:c.297G>T	NP_001341551.1:p.Val99=
NM_001354623.1:c.297G>T	NP_001341552.1:p.Val99=
NM_001354624.1:c.246G>T	NP_001341553.1:p.Val82=
NM_001354625.1:c.246G>T	NP_001341554.1:p.Val82=
NM_001354626.1:c.246G>T	NP_001341555.1:p.Val82=
NM_001354627.1:c.246G>T	NP_001341556.1:p.Val82=
NM_001354628.1:c.1320G>T	NP_001341557.1:p.Val440=
NM_001354629.1:c.1221G>T	NP_001341558.1:p.Val407=
NM_001354630.1:c.1320G>T	NP_001341559.1:p.Val440=
XM_005265161.2:c.1113G>T	XP_005265218.1:p.Val371=
XM_017006450.2:c.297G>T	XP_016861939.1:p.Val99=
NM_000249.4:c.1320G>T MANE Select	NP_000240.1:p.Val440=
NM_001167617.3:c.1026G>T	NP_001161089.1:p.Val342=
NM_001167618.3:c.597G>T	NP_001161090.1:p.Val199=
NM_001167619.3:c.597G>T	NP_001161091.1:p.Val199=
NM_001258271.2:c.1320G>T	NP_001245200.1:p.Val440=
NM_001258273.2:c.597G>T	NP_001245202.1:p.Val199=
NM_001258274.3:c.597G>T	NP_001245203.1:p.Val199=
NM_001354615.2:c.597G>T	NP_001341544.1:p.Val199=
NM_001354616.2:c.597G>T	NP_001341545.1:p.Val199=
NM_001354617.2:c.597G>T	NP_001341546.1:p.Val199=
NM_001354618.2:c.597G>T	NP_001341547.1:p.Val199=
NM_001354619.2:c.597G>T	NP_001341548.1:p.Val199=
NM_001354620.2:c.1026G>T	NP_001341549.1:p.Val342=
NM_001354621.2:c.297G>T	NP_001341550.1:p.Val99=
NM_001354622.2:c.297G>T	NP_001341551.1:p.Val99=
NM_001354623.2:c.297G>T	NP_001341552.1:p.Val99=
NM_001354624.2:c.246G>T	NP_001341553.1:p.Val82=
NM_001354625.2:c.246G>T	NP_001341554.1:p.Val82=
NM_001354626.2:c.246G>T	NP_001341555.1:p.Val82=
NM_001354627.2:c.246G>T	NP_001341556.1:p.Val82=
NM_001354628.2:c.1320G>T	NP_001341557.1:p.Val440=
NM_001354629.2:c.1221G>T	NP_001341558.1:p.Val407=
NM_001354630.2:c.1320G>T	NP_001341559.1:p.Val440=