Canonical Allele Identifier: CA346749372

Linked Data

dbSNP Id: rs1188095395
gnomAD v3: 2-47799791-A-T
gnomAD v4: 2-47799791-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47799791A>T , CM000664.2:g.47799791A>T GRCh38
NC_000002.11:g.48026930A>T , CM000664.1:g.48026930A>T GRCh37
NC_000002.10:g.47880434A>T NCBI36
NG_007111.1:g.21645A>T , LRG_219:g.21645A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000411819.2:c.1511A>T (MSH6) ENSP00000406248.2:p.Lys504Met
ENST00000420813.6:c.1511A>T (MSH6) ENSP00000390382.2:p.Lys504Met
ENST00000455383.6:c.1511A>T (MSH6) ENSP00000397484.2:p.Lys504Met
ENST00000700004.2:c.1808A>T (MSH6) ENSP00000514752.2:p.Lys603Met
ENST00000699999.1:n.1892A>T (MSH6)
ENST00000700000.1:c.1606+202A>T (MSH6) ENSP00000514749.1:n.1606+202A>T
ENST00000700002.1:c.1814A>T (MSH6) ENSP00000514750.1:p.Lys605Met
ENST00000700003.1:c.628-3629A>T (MSH6) ENSP00000514751.1:n.628-3629A>T
ENST00000700004.1:c.965A>T (MSH6) ENSP00000514752.1:p.Lys322Met
ENST00000234420.11:c.1808A>T (MSH6) MANE Select ENSP00000234420.5:p.Lys603Met
ENST00000540021.6:c.1418A>T (MSH6) ENSP00000446475.1:p.Lys473Met
ENST00000652107.1:c.1511A>T (MSH6) ENSP00000498629.1:p.Lys504Met
ENST00000673637.1:c.1511A>T (MSH6) ENSP00000501310.1:p.Lys504Met
ENST00000234420.9:c.1808A>T (MSH6) ENSP00000234420.4:p.Lys603Met
ENST00000405808.5:c.169+8404T>A (FBXO11) ENSP00000385127.1:n.169+8404T>A
ENST00000434234.5:c.*124+8203T>A (FBXO11) ENSP00000402692.1:n.*124+8203T>A
ENST00000445503.5:c.*1155A>T (MSH6) ENSP00000405294.1:n.*1155A>T
ENST00000538136.1:c.902A>T (MSH6) ENSP00000438580.1:p.Lys301Met
ENST00000540021.5:c.1418A>T (MSH6) ENSP00000446475.1:p.Lys473Met
ENST00000614496.4:c.902A>T (MSH6) ENSP00000477844.1:p.Lys301Met
ENST00000616033.4:c.1805A>T (MSH6) ENSP00000480261.1:p.Lys602Met
ENST00000622629.4:c.-1289A>T (MSH6) ENSP00000482078.1:n.-1289A>T
NM_000179.2:c.1808A>T , LRG_219t1:c.1808A>T (MSH6) NP_000170.1:p.Lys603Met
NM_001281492.1:c.1418A>T (MSH6) NP_001268421.1:p.Lys473Met
NM_001281493.1:c.902A>T (MSH6) NP_001268422.1:p.Lys301Met
NM_001281494.1:c.902A>T (MSH6) NP_001268423.1:p.Lys301Met
XM_005264271.1:c.1511A>T (MSH6) XP_005264328.1:p.Lys504Met
XM_011532798.1:c.1625A>T (MSH6) XP_011531100.1:p.Lys542Met
XM_011532799.1:c.1511A>T (MSH6) XP_011531101.1:p.Lys504Met
XM_011532800.1:c.1511A>T (MSH6) XP_011531102.1:p.Lys504Met
XM_024452819.1:c.1808A>T (MSH6) XP_024308587.1:p.Lys603Met
XM_024452820.1:c.1625A>T (MSH6) XP_024308588.1:p.Lys542Met
XM_024452821.1:c.1511A>T (MSH6) XP_024308589.1:p.Lys504Met
XM_024452822.1:c.902A>T (MSH6) XP_024308590.1:p.Lys301Met
NM_000179.3:c.1808A>T (MSH6) MANE Select NP_000170.1:p.Lys603Met
NM_001281492.2:c.1418A>T (MSH6) NP_001268421.1:p.Lys473Met
NM_001281493.2:c.902A>T (MSH6) NP_001268422.1:p.Lys301Met
NM_001281494.2:c.902A>T (MSH6) NP_001268423.1:p.Lys301Met