Canonical Allele Identifier: CA16610953

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 410436
• ClinVar RCV Id: RCV000623149 ; RCV000491375 ; RCV002051855 ; RCV002230108 ; RCV002272245 ; RCV004001829
• dbSNP Id: rs1060502901
• MyVariant Identifiers: chr2:g.48030574T>G (hg19) ; chr2:g.47803435T>G (hg38)
• PubMed: PMID:23733757

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47803435T>G , CM000664.2:g.47803435T>G	GRCh38
NC_000002.11:g.48030574T>G , CM000664.1:g.48030574T>G	GRCh37
NC_000002.10:g.47884078T>G	NCBI36
NG_007111.1:g.25289T>G , LRG_219:g.25289T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.2891T>G (MSH6)	ENSP00000406248.2:p.Leu964Arg
ENST00000420813.6:c.2891T>G (MSH6)	ENSP00000390382.2:p.Leu964Arg
ENST00000455383.6:c.2891T>G (MSH6)	ENSP00000397484.2:p.Leu964Arg
ENST00000700004.2:c.3173-2183T>G (MSH6)	ENSP00000514752.2:n.3173-2183T>G
ENST00000699999.1:n.3272T>G (MSH6)
ENST00000700000.1:c.1622T>G (MSH6)	ENSP00000514749.1:p.Leu541Arg
ENST00000700002.1:c.3194T>G (MSH6)	ENSP00000514750.1:p.Leu1065Arg
ENST00000700003.1:c.643T>G (MSH6)	ENSP00000514751.1:p.Trp215Gly
ENST00000700004.1:c.2330-2183T>G (MSH6)	ENSP00000514752.1:n.2330-2183T>G
ENST00000700005.1:n.2039T>G (MSH6)
ENST00000700006.1:n.2036T>G (MSH6)
ENST00000700007.1:n.1193T>G (MSH6)
ENST00000700008.1:n.767T>G (MSH6)
ENST00000700009.1:n.766T>G (MSH6)
ENST00000700010.1:n.597T>G (MSH6)
ENST00000700011.1:n.668T>G (MSH6)
ENST00000234420.11:c.3188T>G (MSH6) MANE Select	ENSP00000234420.5:p.Leu1063Arg
ENST00000540021.6:c.2798T>G (MSH6)	ENSP00000446475.1:p.Leu933Arg
ENST00000652107.1:c.2891T>G (MSH6)	ENSP00000498629.1:p.Leu964Arg
ENST00000673637.1:c.2891T>G (MSH6)	ENSP00000501310.1:p.Leu964Arg
ENST00000234420.9:c.3188T>G (MSH6)	ENSP00000234420.4:p.Leu1063Arg
ENST00000405808.5:c.169+4760A>C (FBXO11)	ENSP00000385127.1:n.169+4760A>C
ENST00000434234.5:c.*124+4559A>C (FBXO11)	ENSP00000402692.1:n.*124+4559A>C
ENST00000445503.5:c.*2535T>G (MSH6)	ENSP00000405294.1:n.*2535T>G
ENST00000538136.1:c.2282T>G (MSH6)	ENSP00000438580.1:p.Leu761Arg
ENST00000540021.5:c.2798T>G (MSH6)	ENSP00000446475.1:p.Leu933Arg
ENST00000614496.4:c.2282T>G (MSH6)	ENSP00000477844.1:p.Leu761Arg
ENST00000622629.4:c.92T>G (MSH6)	ENSP00000482078.1:p.Leu31Arg
NM_000179.2:c.3188T>G , LRG_219t1:c.3188T>G (MSH6)	NP_000170.1:p.Leu1063Arg
NM_001281492.1:c.2798T>G (MSH6)	NP_001268421.1:p.Leu933Arg
NM_001281493.1:c.2282T>G (MSH6)	NP_001268422.1:p.Leu761Arg
NM_001281494.1:c.2282T>G (MSH6)	NP_001268423.1:p.Leu761Arg
XM_005264271.1:c.2891T>G (MSH6)	XP_005264328.1:p.Leu964Arg
XM_011532798.1:c.3005T>G (MSH6)	XP_011531100.1:p.Leu1002Arg
XM_011532799.1:c.2891T>G (MSH6)	XP_011531101.1:p.Leu964Arg
XM_011532800.1:c.2891T>G (MSH6)	XP_011531102.1:p.Leu964Arg
XM_024452819.1:c.3188T>G (MSH6)	XP_024308587.1:p.Leu1063Arg
XM_024452820.1:c.3005T>G (MSH6)	XP_024308588.1:p.Leu1002Arg
XM_024452821.1:c.2891T>G (MSH6)	XP_024308589.1:p.Leu964Arg
XM_024452822.1:c.2282T>G (MSH6)	XP_024308590.1:p.Leu761Arg
NM_000179.3:c.3188T>G (MSH6) MANE Select	NP_000170.1:p.Leu1063Arg
NM_001281492.2:c.2798T>G (MSH6)	NP_001268421.1:p.Leu933Arg
NM_001281493.2:c.2282T>G (MSH6)	NP_001268422.1:p.Leu761Arg
NM_001281494.2:c.2282T>G (MSH6)	NP_001268423.1:p.Leu761Arg