Canonical Allele Identifier: CA346761680

Gene: MSH6 FBXO11

Linked Data

• MyVariant Identifiers: chr2:g.48033949G>C (hg19) ; chr2:g.47806810G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806810G>C , CM000664.2:g.47806810G>C	GRCh38
NC_000002.11:g.48033949G>C , CM000664.1:g.48033949G>C	GRCh37
NC_000002.10:g.47887453G>C	NCBI36
NG_007111.1:g.28664G>C , LRG_219:g.28664G>C
NG_008397.1:g.103866C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.3736G>C (MSH6)	ENSP00000406248.2:p.Val1246Leu
ENST00000420813.6:c.3736G>C (MSH6)	ENSP00000390382.2:p.Val1246Leu
ENST00000455383.6:c.3736G>C (MSH6)	ENSP00000397484.2:p.Val1246Leu
ENST00000700004.2:c.3649G>C (MSH6)	ENSP00000514752.2:p.Val1217Leu
ENST00000699999.1:n.4707G>C (MSH6)
ENST00000700000.1:c.2467G>C (MSH6)	ENSP00000514749.1:p.Val823Leu
ENST00000700002.1:c.4039G>C (MSH6)	ENSP00000514750.1:p.Val1347Leu
ENST00000700003.1:c.1488G>C (MSH6)	ENSP00000514751.1:n.1488G>C
ENST00000700004.1:c.2806G>C (MSH6)	ENSP00000514752.1:p.Val936Leu
ENST00000700005.1:n.3011G>C (MSH6)
ENST00000700007.1:n.2628G>C (MSH6)
ENST00000700008.1:n.2295G>C (MSH6)
ENST00000700009.1:n.2697G>C (MSH6)
ENST00000700010.1:n.1442G>C (MSH6)
ENST00000700011.1:n.3327G>C (MSH6)
ENST00000682451.1:n.3938C>G (FBXO11)
ENST00000684712.1:n.4200C>G (FBXO11)
ENST00000234420.11:c.4033G>C (MSH6) MANE Select	ENSP00000234420.5:p.Val1345Leu
ENST00000540021.6:c.3643G>C (MSH6)	ENSP00000446475.1:p.Val1215Leu
ENST00000652107.1:c.3736G>C (MSH6)	ENSP00000498629.1:p.Val1246Leu
ENST00000673637.1:c.3736G>C (MSH6)	ENSP00000501310.1:p.Val1246Leu
ENST00000234420.9:c.4033G>C (MSH6)	ENSP00000234420.4:p.Val1345Leu
ENST00000405808.5:c.169+1385C>G (FBXO11)	ENSP00000385127.1:n.169+1385C>G
ENST00000434234.5:c.*124+1184C>G (FBXO11)	ENSP00000402692.1:n.*124+1184C>G
ENST00000445503.5:c.*3380G>C (MSH6)	ENSP00000405294.1:n.*3380G>C
ENST00000465204.5:n.3100C>G (FBXO11)
ENST00000538136.1:c.3127G>C (MSH6)	ENSP00000438580.1:p.Val1043Leu
ENST00000540021.5:c.3643G>C (MSH6)	ENSP00000446475.1:p.Val1215Leu
ENST00000614496.4:c.3127G>C (MSH6)	ENSP00000477844.1:p.Val1043Leu
ENST00000622629.4:c.934G>C (MSH6)	ENSP00000482078.1:p.Val312Leu
NM_000179.2:c.4033G>C , LRG_219t1:c.4033G>C (MSH6)	NP_000170.1:p.Val1345Leu
NM_001281492.1:c.3643G>C (MSH6)	NP_001268421.1:p.Val1215Leu
NM_001281493.1:c.3127G>C (MSH6)	NP_001268422.1:p.Val1043Leu
NM_001281494.1:c.3127G>C (MSH6)	NP_001268423.1:p.Val1043Leu
XM_005264271.1:c.3736G>C (MSH6)	XP_005264328.1:p.Val1246Leu
XM_011532798.1:c.3850G>C (MSH6)	XP_011531100.1:p.Val1284Leu
XM_011532799.1:c.3736G>C (MSH6)	XP_011531101.1:p.Val1246Leu
XM_011532800.1:c.3736G>C (MSH6)	XP_011531102.1:p.Val1246Leu
XM_024452819.1:c.4126G>C (MSH6)	XP_024308587.1:p.Val1376Leu
XM_024452820.1:c.3943G>C (MSH6)	XP_024308588.1:p.Val1315Leu
XM_024452821.1:c.3829G>C (MSH6)	XP_024308589.1:p.Val1277Leu
XM_024452822.1:c.3220G>C (MSH6)	XP_024308590.1:p.Val1074Leu
NM_000179.3:c.4033G>C (MSH6) MANE Select	NP_000170.1:p.Val1345Leu
NM_001281492.2:c.3643G>C (MSH6)	NP_001268421.1:p.Val1215Leu
NM_001281493.2:c.3127G>C (MSH6)	NP_001268422.1:p.Val1043Leu
NM_001281494.2:c.3127G>C (MSH6)	NP_001268423.1:p.Val1043Leu