Canonical Allele Identifier: CA346761045

Gene: MSH6 FBXO11

Linked Data

• MyVariant Identifiers: chr2:g.48033431T>G (hg19) ; chr2:g.47806292T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806292T>G , CM000664.2:g.47806292T>G	GRCh38
NC_000002.11:g.48033431T>G , CM000664.1:g.48033431T>G	GRCh37
NC_000002.10:g.47886935T>G	NCBI36
NG_007111.1:g.28146T>G , LRG_219:g.28146T>G
NG_008397.1:g.104384A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3438T>G (MSH6)	ENSP00000406248.2:p.Phe1146Leu
ENST00000420813.6:c.3438T>G (MSH6)	ENSP00000390382.2:p.Phe1146Leu
ENST00000455383.6:c.3438T>G (MSH6)	ENSP00000397484.2:p.Phe1146Leu
ENST00000700004.2:c.3351T>G (MSH6)	ENSP00000514752.2:p.Phe1117Leu
ENST00000699999.1:n.4409T>G (MSH6)
ENST00000700000.1:c.2169T>G (MSH6)	ENSP00000514749.1:p.Phe723Leu
ENST00000700002.1:c.3741T>G (MSH6)	ENSP00000514750.1:p.Phe1247Leu
ENST00000700003.1:c.1190T>G (MSH6)	ENSP00000514751.1:n.1190T>G
ENST00000700004.1:c.2508T>G (MSH6)	ENSP00000514752.1:p.Phe836Leu
ENST00000700005.1:n.2586T>G (MSH6)
ENST00000700006.1:n.4893T>G (MSH6)
ENST00000700007.1:n.2330T>G (MSH6)
ENST00000700008.1:n.1904T>G (MSH6)
ENST00000700009.1:n.2399T>G (MSH6)
ENST00000700010.1:n.1144T>G (MSH6)
ENST00000700011.1:n.3029T>G (MSH6)
ENST00000682451.1:n.4456A>C (FBXO11)
ENST00000684712.1:n.4718A>C (FBXO11)
ENST00000234420.11:c.3735T>G (MSH6) MANE Select	ENSP00000234420.5:p.Phe1245Leu
ENST00000540021.6:c.3345T>G (MSH6)	ENSP00000446475.1:p.Phe1115Leu
ENST00000652107.1:c.3438T>G (MSH6)	ENSP00000498629.1:p.Phe1146Leu
ENST00000673637.1:c.3438T>G (MSH6)	ENSP00000501310.1:p.Phe1146Leu
ENST00000234420.9:c.3735T>G (MSH6)	ENSP00000234420.4:p.Phe1245Leu
ENST00000405808.5:c.169+1903A>C (FBXO11)	ENSP00000385127.1:n.169+1903A>C
ENST00000434234.5:c.*124+1702A>C (FBXO11)	ENSP00000402692.1:n.*124+1702A>C
ENST00000445503.5:c.*3082T>G (MSH6)	ENSP00000405294.1:n.*3082T>G
ENST00000538136.1:c.2829T>G (MSH6)	ENSP00000438580.1:p.Phe943Leu
ENST00000540021.5:c.3345T>G (MSH6)	ENSP00000446475.1:p.Phe1115Leu
ENST00000614496.4:c.2829T>G (MSH6)	ENSP00000477844.1:p.Phe943Leu
ENST00000622629.4:c.639T>G (MSH6)	ENSP00000482078.1:p.Phe213Leu
NM_000179.2:c.3735T>G , LRG_219t1:c.3735T>G (MSH6)	NP_000170.1:p.Phe1245Leu
NM_001281492.1:c.3345T>G (MSH6)	NP_001268421.1:p.Phe1115Leu
NM_001281493.1:c.2829T>G (MSH6)	NP_001268422.1:p.Phe943Leu
NM_001281494.1:c.2829T>G (MSH6)	NP_001268423.1:p.Phe943Leu
XM_005264271.1:c.3438T>G (MSH6)	XP_005264328.1:p.Phe1146Leu
XM_011532798.1:c.3552T>G (MSH6)	XP_011531100.1:p.Phe1184Leu
XM_011532799.1:c.3438T>G (MSH6)	XP_011531101.1:p.Phe1146Leu
XM_011532800.1:c.3438T>G (MSH6)	XP_011531102.1:p.Phe1146Leu
XM_024452819.1:c.3735T>G (MSH6)	XP_024308587.1:p.Phe1245Leu
XM_024452820.1:c.3552T>G (MSH6)	XP_024308588.1:p.Phe1184Leu
XM_024452821.1:c.3438T>G (MSH6)	XP_024308589.1:p.Phe1146Leu
XM_024452822.1:c.2829T>G (MSH6)	XP_024308590.1:p.Phe943Leu
NM_000179.3:c.3735T>G (MSH6) MANE Select	NP_000170.1:p.Phe1245Leu
NM_001281492.2:c.3345T>G (MSH6)	NP_001268421.1:p.Phe1115Leu
NM_001281493.2:c.2829T>G (MSH6)	NP_001268422.1:p.Phe943Leu
NM_001281494.2:c.2829T>G (MSH6)	NP_001268423.1:p.Phe943Leu