Canonical Allele Identifier: CA346761512

Gene: MSH6 FBXO11

Linked Data

• dbSNP Id: rs1558394245
• MyVariant Identifiers: chr2:g.48033733A>T (hg19) ; chr2:g.47806594A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806594A>T , CM000664.2:g.47806594A>T	GRCh38
NC_000002.11:g.48033733A>T , CM000664.1:g.48033733A>T	GRCh37
NC_000002.10:g.47887237A>T	NCBI36
NG_007111.1:g.28448A>T , LRG_219:g.28448A>T
NG_008397.1:g.104082T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3647A>T (MSH6)	ENSP00000406248.2:p.Lys1216Met
ENST00000420813.6:c.3647A>T (MSH6)	ENSP00000390382.2:p.Lys1216Met
ENST00000455383.6:c.3647A>T (MSH6)	ENSP00000397484.2:p.Lys1216Met
ENST00000700004.2:c.3560A>T (MSH6)	ENSP00000514752.2:p.Lys1187Met
ENST00000699999.1:n.4618A>T (MSH6)
ENST00000700000.1:c.2378A>T (MSH6)	ENSP00000514749.1:p.Lys793Met
ENST00000700002.1:c.3950A>T (MSH6)	ENSP00000514750.1:p.Lys1317Met
ENST00000700003.1:c.1399A>T (MSH6)	ENSP00000514751.1:n.1399A>T
ENST00000700004.1:c.2717A>T (MSH6)	ENSP00000514752.1:p.Lys906Met
ENST00000700005.1:n.2795A>T (MSH6)
ENST00000700006.1:n.5102A>T (MSH6)
ENST00000700007.1:n.2539A>T (MSH6)
ENST00000700008.1:n.2206A>T (MSH6)
ENST00000700009.1:n.2608A>T (MSH6)
ENST00000700010.1:n.1353A>T (MSH6)
ENST00000700011.1:n.3238A>T (MSH6)
ENST00000682451.1:n.4154T>A (FBXO11)
ENST00000684712.1:n.4416T>A (FBXO11)
ENST00000234420.11:c.3944A>T (MSH6) MANE Select	ENSP00000234420.5:p.Lys1315Met
ENST00000540021.6:c.3554A>T (MSH6)	ENSP00000446475.1:p.Lys1185Met
ENST00000652107.1:c.3647A>T (MSH6)	ENSP00000498629.1:p.Lys1216Met
ENST00000673637.1:c.3647A>T (MSH6)	ENSP00000501310.1:p.Lys1216Met
ENST00000234420.9:c.3944A>T (MSH6)	ENSP00000234420.4:p.Lys1315Met
ENST00000405808.5:c.169+1601T>A (FBXO11)	ENSP00000385127.1:n.169+1601T>A
ENST00000434234.5:c.*124+1400T>A (FBXO11)	ENSP00000402692.1:n.*124+1400T>A
ENST00000445503.5:c.*3291A>T (MSH6)	ENSP00000405294.1:n.*3291A>T
ENST00000538136.1:c.3038A>T (MSH6)	ENSP00000438580.1:p.Lys1013Met
ENST00000540021.5:c.3554A>T (MSH6)	ENSP00000446475.1:p.Lys1185Met
ENST00000614496.4:c.3038A>T (MSH6)	ENSP00000477844.1:p.Lys1013Met
ENST00000622629.4:c.845A>T (MSH6)	ENSP00000482078.1:p.Lys282Met
NM_000179.2:c.3944A>T , LRG_219t1:c.3944A>T (MSH6)	NP_000170.1:p.Lys1315Met
NM_001281492.1:c.3554A>T (MSH6)	NP_001268421.1:p.Lys1185Met
NM_001281493.1:c.3038A>T (MSH6)	NP_001268422.1:p.Lys1013Met
NM_001281494.1:c.3038A>T (MSH6)	NP_001268423.1:p.Lys1013Met
XM_005264271.1:c.3647A>T (MSH6)	XP_005264328.1:p.Lys1216Met
XM_011532798.1:c.3761A>T (MSH6)	XP_011531100.1:p.Lys1254Met
XM_011532799.1:c.3647A>T (MSH6)	XP_011531101.1:p.Lys1216Met
XM_011532800.1:c.3647A>T (MSH6)	XP_011531102.1:p.Lys1216Met
XM_024452819.1:c.4037A>T (MSH6)	XP_024308587.1:p.Lys1346Met
XM_024452820.1:c.3854A>T (MSH6)	XP_024308588.1:p.Lys1285Met
XM_024452821.1:c.3740A>T (MSH6)	XP_024308589.1:p.Lys1247Met
XM_024452822.1:c.3131A>T (MSH6)	XP_024308590.1:p.Lys1044Met
NM_000179.3:c.3944A>T (MSH6) MANE Select	NP_000170.1:p.Lys1315Met
NM_001281492.2:c.3554A>T (MSH6)	NP_001268421.1:p.Lys1185Met
NM_001281493.2:c.3038A>T (MSH6)	NP_001268422.1:p.Lys1013Met
NM_001281494.2:c.3038A>T (MSH6)	NP_001268423.1:p.Lys1013Met