Canonical Allele Identifier: CA346761770

Gene: MSH6 FBXO11

Linked Data

• dbSNP Id: rs1572750513
• MyVariant Identifiers: chr2:g.48033994T>A (hg19) ; chr2:g.47806855T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806855T>A , CM000664.2:g.47806855T>A	GRCh38
NC_000002.11:g.48033994T>A , CM000664.1:g.48033994T>A	GRCh37
NC_000002.10:g.47887498T>A	NCBI36
NG_007111.1:g.28709T>A , LRG_219:g.28709T>A
NG_008397.1:g.103821A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3781T>A (MSH6)	ENSP00000406248.2:p.Leu1261Ile
ENST00000420813.6:c.3781T>A (MSH6)	ENSP00000390382.2:p.Leu1261Ile
ENST00000455383.6:c.3781T>A (MSH6)	ENSP00000397484.2:p.Leu1261Ile
ENST00000700004.2:c.3694T>A (MSH6)	ENSP00000514752.2:p.Leu1232Ile
ENST00000699999.1:n.4752T>A (MSH6)
ENST00000700000.1:c.2512T>A (MSH6)	ENSP00000514749.1:p.Leu838Ile
ENST00000700002.1:c.4084T>A (MSH6)	ENSP00000514750.1:p.Leu1362Ile
ENST00000700003.1:c.1533T>A (MSH6)	ENSP00000514751.1:n.1533T>A
ENST00000700004.1:c.2851T>A (MSH6)	ENSP00000514752.1:p.Leu951Ile
ENST00000700005.1:n.3056T>A (MSH6)
ENST00000700007.1:n.2673T>A (MSH6)
ENST00000700008.1:n.2340T>A (MSH6)
ENST00000700009.1:n.2742T>A (MSH6)
ENST00000700010.1:n.1487T>A (MSH6)
ENST00000700011.1:n.3372T>A (MSH6)
ENST00000682451.1:n.3893A>T (FBXO11)
ENST00000684712.1:n.4155A>T (FBXO11)
ENST00000234420.11:c.4078T>A (MSH6) MANE Select	ENSP00000234420.5:p.Leu1360Ile
ENST00000540021.6:c.3688T>A (MSH6)	ENSP00000446475.1:p.Leu1230Ile
ENST00000652107.1:c.3781T>A (MSH6)	ENSP00000498629.1:p.Leu1261Ile
ENST00000673637.1:c.3781T>A (MSH6)	ENSP00000501310.1:p.Leu1261Ile
ENST00000234420.9:c.4078T>A (MSH6)	ENSP00000234420.4:p.Leu1360Ile
ENST00000405808.5:c.169+1340A>T (FBXO11)	ENSP00000385127.1:n.169+1340A>T
ENST00000434234.5:c.*124+1139A>T (FBXO11)	ENSP00000402692.1:n.*124+1139A>T
ENST00000445503.5:c.*3425T>A (MSH6)	ENSP00000405294.1:n.*3425T>A
ENST00000465204.5:n.3055A>T (FBXO11)
ENST00000538136.1:c.3172T>A (MSH6)	ENSP00000438580.1:p.Leu1058Ile
ENST00000540021.5:c.3688T>A (MSH6)	ENSP00000446475.1:p.Leu1230Ile
ENST00000614496.4:c.3172T>A (MSH6)	ENSP00000477844.1:p.Leu1058Ile
ENST00000622629.4:c.979T>A (MSH6)	ENSP00000482078.1:p.Leu327Ile
NM_000179.2:c.4078T>A , LRG_219t1:c.4078T>A (MSH6)	NP_000170.1:p.Leu1360Ile
NM_001281492.1:c.3688T>A (MSH6)	NP_001268421.1:p.Leu1230Ile
NM_001281493.1:c.3172T>A (MSH6)	NP_001268422.1:p.Leu1058Ile
NM_001281494.1:c.3172T>A (MSH6)	NP_001268423.1:p.Leu1058Ile
XM_005264271.1:c.3781T>A (MSH6)	XP_005264328.1:p.Leu1261Ile
XM_011532798.1:c.3895T>A (MSH6)	XP_011531100.1:p.Leu1299Ile
XM_011532799.1:c.3781T>A (MSH6)	XP_011531101.1:p.Leu1261Ile
XM_011532800.1:c.3781T>A (MSH6)	XP_011531102.1:p.Leu1261Ile
XM_024452819.1:c.4171T>A (MSH6)	XP_024308587.1:p.Leu1391Ile
XM_024452820.1:c.3988T>A (MSH6)	XP_024308588.1:p.Leu1330Ile
XM_024452821.1:c.3874T>A (MSH6)	XP_024308589.1:p.Leu1292Ile
XM_024452822.1:c.3265T>A (MSH6)	XP_024308590.1:p.Leu1089Ile
NM_000179.3:c.4078T>A (MSH6) MANE Select	NP_000170.1:p.Leu1360Ile
NM_001281492.2:c.3688T>A (MSH6)	NP_001268421.1:p.Leu1230Ile
NM_001281493.2:c.3172T>A (MSH6)	NP_001268422.1:p.Leu1058Ile
NM_001281494.2:c.3172T>A (MSH6)	NP_001268423.1:p.Leu1058Ile