Canonical Allele Identifier: CA013759

Linked Data

ClinVar Variation Id: 89442
dbSNP Id: rs63750949
COSMIC: COSM13892

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806213C>T , CM000664.2:g.47806213C>T GRCh38
NC_000002.11:g.48033352C>T , CM000664.1:g.48033352C>T GRCh37
NC_000002.10:g.47886856C>T NCBI36
NG_007111.1:g.28067C>T , LRG_219:g.28067C>T
NG_008397.1:g.104463G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.3359C>T (MSH6) ENSP00000406248.2:p.Thr1120Ile
ENST00000420813.6:c.3359C>T (MSH6) ENSP00000390382.2:p.Thr1120Ile
ENST00000455383.6:c.3359C>T (MSH6) ENSP00000397484.2:p.Thr1120Ile
ENST00000700004.2:c.3272C>T (MSH6) ENSP00000514752.2:p.Thr1091Ile
ENST00000699999.1:n.4330C>T (MSH6)
ENST00000700000.1:c.2090C>T (MSH6) ENSP00000514749.1:p.Thr697Ile
ENST00000700002.1:c.3662C>T (MSH6) ENSP00000514750.1:p.Thr1221Ile
ENST00000700003.1:c.1111C>T (MSH6) ENSP00000514751.1:n.1111C>T
ENST00000700004.1:c.2429C>T (MSH6) ENSP00000514752.1:p.Thr810Ile
ENST00000700005.1:n.2507C>T (MSH6)
ENST00000700006.1:n.4814C>T (MSH6)
ENST00000700007.1:n.2251C>T (MSH6)
ENST00000700008.1:n.1825C>T (MSH6)
ENST00000700009.1:n.2320C>T (MSH6)
ENST00000700010.1:n.1065C>T (MSH6)
ENST00000700011.1:n.2950C>T (MSH6)
ENST00000682451.1:n.4535G>A (FBXO11)
ENST00000684712.1:n.4797G>A (FBXO11)
ENST00000234420.11:c.3656C>T (MSH6) MANE Select ENSP00000234420.5:p.Thr1219Ile
ENST00000540021.6:c.3266C>T (MSH6) ENSP00000446475.1:p.Thr1089Ile
ENST00000652107.1:c.3359C>T (MSH6) ENSP00000498629.1:p.Thr1120Ile
ENST00000673637.1:c.3359C>T (MSH6) ENSP00000501310.1:p.Thr1120Ile
ENST00000234420.9:c.3656C>T (MSH6) ENSP00000234420.4:p.Thr1219Ile
ENST00000405808.5:c.169+1982G>A (FBXO11) ENSP00000385127.1:n.169+1982G>A
ENST00000434234.5:c.*124+1781G>A (FBXO11) ENSP00000402692.1:n.*124+1781G>A
ENST00000445503.5:c.*3003C>T (MSH6) ENSP00000405294.1:n.*3003C>T
ENST00000538136.1:c.2750C>T (MSH6) ENSP00000438580.1:p.Thr917Ile
ENST00000540021.5:c.3266C>T (MSH6) ENSP00000446475.1:p.Thr1089Ile
ENST00000614496.4:c.2750C>T (MSH6) ENSP00000477844.1:p.Thr917Ile
ENST00000622629.4:c.560C>T (MSH6) ENSP00000482078.1:p.Thr187Ile
NM_000179.2:c.3656C>T , LRG_219t1:c.3656C>T (MSH6) NP_000170.1:p.Thr1219Ile
NM_001281492.1:c.3266C>T (MSH6) NP_001268421.1:p.Thr1089Ile
NM_001281493.1:c.2750C>T (MSH6) NP_001268422.1:p.Thr917Ile
NM_001281494.1:c.2750C>T (MSH6) NP_001268423.1:p.Thr917Ile
XM_005264271.1:c.3359C>T (MSH6) XP_005264328.1:p.Thr1120Ile
XM_011532798.1:c.3473C>T (MSH6) XP_011531100.1:p.Thr1158Ile
XM_011532799.1:c.3359C>T (MSH6) XP_011531101.1:p.Thr1120Ile
XM_011532800.1:c.3359C>T (MSH6) XP_011531102.1:p.Thr1120Ile
XM_024452819.1:c.3656C>T (MSH6) XP_024308587.1:p.Thr1219Ile
XM_024452820.1:c.3473C>T (MSH6) XP_024308588.1:p.Thr1158Ile
XM_024452821.1:c.3359C>T (MSH6) XP_024308589.1:p.Thr1120Ile
XM_024452822.1:c.2750C>T (MSH6) XP_024308590.1:p.Thr917Ile
NM_000179.3:c.3656C>T (MSH6) MANE Select NP_000170.1:p.Thr1219Ile
NM_001281492.2:c.3266C>T (MSH6) NP_001268421.1:p.Thr1089Ile
NM_001281493.2:c.2750C>T (MSH6) NP_001268422.1:p.Thr917Ile
NM_001281494.2:c.2750C>T (MSH6) NP_001268423.1:p.Thr917Ile