Canonical Allele Identifier: CA346755217

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47800647G>T , CM000664.2:g.47800647G>T GRCh38
NC_000002.11:g.48027786G>T , CM000664.1:g.48027786G>T GRCh37
NC_000002.10:g.47881290G>T NCBI36
NG_007111.1:g.22501G>T , LRG_219:g.22501G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.2367G>T (MSH6) ENSP00000406248.2:p.Lys789Asn
ENST00000420813.6:c.2367G>T (MSH6) ENSP00000390382.2:p.Lys789Asn
ENST00000455383.6:c.2367G>T (MSH6) ENSP00000397484.2:p.Lys789Asn
ENST00000700004.2:c.2664G>T (MSH6) ENSP00000514752.2:p.Lys888Asn
ENST00000699999.1:n.2748G>T (MSH6)
ENST00000700000.1:c.1606+1058G>T (MSH6) ENSP00000514749.1:n.1606+1058G>T
ENST00000700002.1:c.2670G>T (MSH6) ENSP00000514750.1:p.Lys890Asn
ENST00000700003.1:c.628-2773G>T (MSH6) ENSP00000514751.1:n.628-2773G>T
ENST00000700004.1:c.1821G>T (MSH6) ENSP00000514752.1:p.Lys607Asn
ENST00000234420.11:c.2664G>T (MSH6) MANE Select ENSP00000234420.5:p.Lys888Asn
ENST00000540021.6:c.2274G>T (MSH6) ENSP00000446475.1:p.Lys758Asn
ENST00000652107.1:c.2367G>T (MSH6) ENSP00000498629.1:p.Lys789Asn
ENST00000673637.1:c.2367G>T (MSH6) ENSP00000501310.1:p.Lys789Asn
ENST00000234420.9:c.2664G>T (MSH6) ENSP00000234420.4:p.Lys888Asn
ENST00000405808.5:c.169+7548C>A (FBXO11) ENSP00000385127.1:n.169+7548C>A
ENST00000434234.5:c.*124+7347C>A (FBXO11) ENSP00000402692.1:n.*124+7347C>A
ENST00000445503.5:c.*2011G>T (MSH6) ENSP00000405294.1:n.*2011G>T
ENST00000538136.1:c.1758G>T (MSH6) ENSP00000438580.1:p.Lys586Asn
ENST00000540021.5:c.2274G>T (MSH6) ENSP00000446475.1:p.Lys758Asn
ENST00000614496.4:c.1758G>T (MSH6) ENSP00000477844.1:p.Lys586Asn
ENST00000616033.4:c.2661G>T (MSH6) ENSP00000480261.1:p.Lys887Asn
ENST00000622629.4:c.-433G>T (MSH6) ENSP00000482078.1:n.-433G>T
NM_000179.2:c.2664G>T , LRG_219t1:c.2664G>T (MSH6) NP_000170.1:p.Lys888Asn
NM_001281492.1:c.2274G>T (MSH6) NP_001268421.1:p.Lys758Asn
NM_001281493.1:c.1758G>T (MSH6) NP_001268422.1:p.Lys586Asn
NM_001281494.1:c.1758G>T (MSH6) NP_001268423.1:p.Lys586Asn
XM_005264271.1:c.2367G>T (MSH6) XP_005264328.1:p.Lys789Asn
XM_011532798.1:c.2481G>T (MSH6) XP_011531100.1:p.Lys827Asn
XM_011532799.1:c.2367G>T (MSH6) XP_011531101.1:p.Lys789Asn
XM_011532800.1:c.2367G>T (MSH6) XP_011531102.1:p.Lys789Asn
XM_024452819.1:c.2664G>T (MSH6) XP_024308587.1:p.Lys888Asn
XM_024452820.1:c.2481G>T (MSH6) XP_024308588.1:p.Lys827Asn
XM_024452821.1:c.2367G>T (MSH6) XP_024308589.1:p.Lys789Asn
XM_024452822.1:c.1758G>T (MSH6) XP_024308590.1:p.Lys586Asn
NM_000179.3:c.2664G>T (MSH6) MANE Select NP_000170.1:p.Lys888Asn
NM_001281492.2:c.2274G>T (MSH6) NP_001268421.1:p.Lys758Asn
NM_001281493.2:c.1758G>T (MSH6) NP_001268422.1:p.Lys586Asn
NM_001281494.2:c.1758G>T (MSH6) NP_001268423.1:p.Lys586Asn