Canonical Allele Identifier: CA2573134777

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1651218
• ClinVar RCV Id: RCV002155712
• dbSNP Id: rs2104547708
• gnomAD v4: 2-47806371-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806371T>C , CM000664.2:g.47806371T>C	GRCh38
NC_000002.11:g.48033510T>C , CM000664.1:g.48033510T>C	GRCh37
NC_000002.10:g.47887014T>C	NCBI36
NG_007111.1:g.28225T>C , LRG_219:g.28225T>C
NG_008397.1:g.104305A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.3504+13T>C (MSH6)	ENSP00000406248.2:n.3504+13T>C
ENST00000420813.6:c.3504+13T>C (MSH6)	ENSP00000390382.2:n.3504+13T>C
ENST00000455383.6:c.3504+13T>C (MSH6)	ENSP00000397484.2:n.3504+13T>C
ENST00000700004.2:c.3417+13T>C (MSH6)	ENSP00000514752.2:n.3417+13T>C
ENST00000699999.1:n.4475+13T>C (MSH6)
ENST00000700000.1:c.2235+13T>C (MSH6)	ENSP00000514749.1:n.2235+13T>C
ENST00000700002.1:c.3807+13T>C (MSH6)	ENSP00000514750.1:n.3807+13T>C
ENST00000700003.1:c.1256+13T>C (MSH6)	ENSP00000514751.1:n.1256+13T>C
ENST00000700004.1:c.2574+13T>C (MSH6)	ENSP00000514752.1:n.2574+13T>C
ENST00000700005.1:n.2652+13T>C (MSH6)
ENST00000700006.1:n.4959+13T>C (MSH6)
ENST00000700007.1:n.2396+13T>C (MSH6)
ENST00000700008.1:n.1983T>C (MSH6)
ENST00000700009.1:n.2465+13T>C (MSH6)
ENST00000700010.1:n.1210+13T>C (MSH6)
ENST00000700011.1:n.3095+13T>C (MSH6)
ENST00000682451.1:n.4377A>G (FBXO11)
ENST00000684712.1:n.4639A>G (FBXO11)
ENST00000234420.11:c.3801+13T>C (MSH6) MANE Select	ENSP00000234420.5:n.3801+13T>C
ENST00000540021.6:c.3411+13T>C (MSH6)	ENSP00000446475.1:n.3411+13T>C
ENST00000652107.1:c.3504+13T>C (MSH6)	ENSP00000498629.1:n.3504+13T>C
ENST00000673637.1:c.3504+13T>C (MSH6)	ENSP00000501310.1:n.3504+13T>C
ENST00000234420.9:c.3801+13T>C (MSH6)	ENSP00000234420.4:n.3801+13T>C
ENST00000405808.5:c.169+1824A>G (FBXO11)	ENSP00000385127.1:n.169+1824A>G
ENST00000434234.5:c.*124+1623A>G (FBXO11)	ENSP00000402692.1:n.*124+1623A>G
ENST00000445503.5:c.*3148+13T>C (MSH6)	ENSP00000405294.1:n.*3148+13T>C
ENST00000538136.1:c.2895+13T>C (MSH6)	ENSP00000438580.1:n.2895+13T>C
ENST00000540021.5:c.3411+13T>C (MSH6)	ENSP00000446475.1:n.3411+13T>C
ENST00000614496.4:c.2895+13T>C (MSH6)	ENSP00000477844.1:n.2895+13T>C
ENST00000622629.4:c.702+13T>C (MSH6)	ENSP00000482078.1:n.702+13T>C
NM_000179.2:c.3801+13T>C , LRG_219t1:c.3801+13T>C (MSH6)	NP_000170.1:n.3801+13T>C
NM_001281492.1:c.3411+13T>C (MSH6)	NP_001268421.1:n.3411+13T>C
NM_001281493.1:c.2895+13T>C (MSH6)	NP_001268422.1:n.2895+13T>C
NM_001281494.1:c.2895+13T>C (MSH6)	NP_001268423.1:n.2895+13T>C
XM_005264271.1:c.3504+13T>C (MSH6)	XP_005264328.1:n.3504+13T>C
XM_011532798.1:c.3618+13T>C (MSH6)	XP_011531100.1:n.3618+13T>C
XM_011532799.1:c.3504+13T>C (MSH6)	XP_011531101.1:n.3504+13T>C
XM_011532800.1:c.3504+13T>C (MSH6)	XP_011531102.1:n.3504+13T>C
XM_024452819.1:c.3814T>C (MSH6)	XP_024308587.1:p.Cys1272Arg
XM_024452820.1:c.3631T>C (MSH6)	XP_024308588.1:p.Cys1211Arg
XM_024452821.1:c.3517T>C (MSH6)	XP_024308589.1:p.Cys1173Arg
XM_024452822.1:c.2908T>C (MSH6)	XP_024308590.1:p.Cys970Arg
NM_000179.3:c.3801+13T>C (MSH6) MANE Select	NP_000170.1:n.3801+13T>C
NM_001281492.2:c.3411+13T>C (MSH6)	NP_001268421.1:n.3411+13T>C
NM_001281493.2:c.2895+13T>C (MSH6)	NP_001268422.1:n.2895+13T>C
NM_001281494.2:c.2895+13T>C (MSH6)	NP_001268423.1:n.2895+13T>C