Canonical Allele Identifier: CA346761700

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 525857
• ClinVar RCV Id: RCV000630206 ; RCV000764437 ; RCV001354879 ; RCV001775930 ; RCV001021738
• dbSNP Id: rs1449733937
• gnomAD v3: 2-47806820-A-C
• gnomAD v4: 2-47806820-A-C
• MyVariant Identifiers: chr2:g.48033959A>C (hg19) ; chr2:g.47806820A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806820A>C , CM000664.2:g.47806820A>C	GRCh38
NC_000002.11:g.48033959A>C , CM000664.1:g.48033959A>C	GRCh37
NC_000002.10:g.47887463A>C	NCBI36
NG_007111.1:g.28674A>C , LRG_219:g.28674A>C
NG_008397.1:g.103856T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3746A>C (MSH6)	ENSP00000406248.2:p.Glu1249Ala
ENST00000420813.6:c.3746A>C (MSH6)	ENSP00000390382.2:p.Glu1249Ala
ENST00000455383.6:c.3746A>C (MSH6)	ENSP00000397484.2:p.Glu1249Ala
ENST00000700004.2:c.3659A>C (MSH6)	ENSP00000514752.2:p.Glu1220Ala
ENST00000699999.1:n.4717A>C (MSH6)
ENST00000700000.1:c.2477A>C (MSH6)	ENSP00000514749.1:p.Glu826Ala
ENST00000700002.1:c.4049A>C (MSH6)	ENSP00000514750.1:p.Glu1350Ala
ENST00000700003.1:c.1498A>C (MSH6)	ENSP00000514751.1:n.1498A>C
ENST00000700004.1:c.2816A>C (MSH6)	ENSP00000514752.1:p.Glu939Ala
ENST00000700005.1:n.3021A>C (MSH6)
ENST00000700007.1:n.2638A>C (MSH6)
ENST00000700008.1:n.2305A>C (MSH6)
ENST00000700009.1:n.2707A>C (MSH6)
ENST00000700010.1:n.1452A>C (MSH6)
ENST00000700011.1:n.3337A>C (MSH6)
ENST00000682451.1:n.3928T>G (FBXO11)
ENST00000684712.1:n.4190T>G (FBXO11)
ENST00000234420.11:c.4043A>C (MSH6) MANE Select	ENSP00000234420.5:p.Glu1348Ala
ENST00000540021.6:c.3653A>C (MSH6)	ENSP00000446475.1:p.Glu1218Ala
ENST00000652107.1:c.3746A>C (MSH6)	ENSP00000498629.1:p.Glu1249Ala
ENST00000673637.1:c.3746A>C (MSH6)	ENSP00000501310.1:p.Glu1249Ala
ENST00000234420.9:c.4043A>C (MSH6)	ENSP00000234420.4:p.Glu1348Ala
ENST00000405808.5:c.169+1375T>G (FBXO11)	ENSP00000385127.1:n.169+1375T>G
ENST00000434234.5:c.*124+1174T>G (FBXO11)	ENSP00000402692.1:n.*124+1174T>G
ENST00000445503.5:c.*3390A>C (MSH6)	ENSP00000405294.1:n.*3390A>C
ENST00000465204.5:n.3090T>G (FBXO11)
ENST00000538136.1:c.3137A>C (MSH6)	ENSP00000438580.1:p.Glu1046Ala
ENST00000540021.5:c.3653A>C (MSH6)	ENSP00000446475.1:p.Glu1218Ala
ENST00000614496.4:c.3137A>C (MSH6)	ENSP00000477844.1:p.Glu1046Ala
ENST00000622629.4:c.944A>C (MSH6)	ENSP00000482078.1:p.Glu315Ala
NM_000179.2:c.4043A>C , LRG_219t1:c.4043A>C (MSH6)	NP_000170.1:p.Glu1348Ala
NM_001281492.1:c.3653A>C (MSH6)	NP_001268421.1:p.Glu1218Ala
NM_001281493.1:c.3137A>C (MSH6)	NP_001268422.1:p.Glu1046Ala
NM_001281494.1:c.3137A>C (MSH6)	NP_001268423.1:p.Glu1046Ala
XM_005264271.1:c.3746A>C (MSH6)	XP_005264328.1:p.Glu1249Ala
XM_011532798.1:c.3860A>C (MSH6)	XP_011531100.1:p.Glu1287Ala
XM_011532799.1:c.3746A>C (MSH6)	XP_011531101.1:p.Glu1249Ala
XM_011532800.1:c.3746A>C (MSH6)	XP_011531102.1:p.Glu1249Ala
XM_024452819.1:c.4136A>C (MSH6)	XP_024308587.1:p.Glu1379Ala
XM_024452820.1:c.3953A>C (MSH6)	XP_024308588.1:p.Glu1318Ala
XM_024452821.1:c.3839A>C (MSH6)	XP_024308589.1:p.Glu1280Ala
XM_024452822.1:c.3230A>C (MSH6)	XP_024308590.1:p.Glu1077Ala
NM_000179.3:c.4043A>C (MSH6) MANE Select	NP_000170.1:p.Glu1348Ala
NM_001281492.2:c.3653A>C (MSH6)	NP_001268421.1:p.Glu1218Ala
NM_001281493.2:c.3137A>C (MSH6)	NP_001268422.1:p.Glu1046Ala
NM_001281494.2:c.3137A>C (MSH6)	NP_001268423.1:p.Glu1046Ala