Canonical Allele Identifier: CA346761232

Gene: MSH6 FBXO11

Linked Data

• dbSNP Id: rs1553333303
• MyVariant Identifiers: chr2:g.48033601T>G (hg19) ; chr2:g.47806462T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806462T>G , CM000664.2:g.47806462T>G	GRCh38
NC_000002.11:g.48033601T>G , CM000664.1:g.48033601T>G	GRCh37
NC_000002.10:g.47887105T>G	NCBI36
NG_007111.1:g.28316T>G , LRG_219:g.28316T>G
NG_008397.1:g.104214A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3515T>G (MSH6)	ENSP00000406248.2:p.Val1172Gly
ENST00000420813.6:c.3515T>G (MSH6)	ENSP00000390382.2:p.Val1172Gly
ENST00000455383.6:c.3515T>G (MSH6)	ENSP00000397484.2:p.Val1172Gly
ENST00000700004.2:c.3428T>G (MSH6)	ENSP00000514752.2:p.Val1143Gly
ENST00000699999.1:n.4486T>G (MSH6)
ENST00000700000.1:c.2246T>G (MSH6)	ENSP00000514749.1:p.Val749Gly
ENST00000700002.1:c.3818T>G (MSH6)	ENSP00000514750.1:p.Val1273Gly
ENST00000700003.1:c.1267T>G (MSH6)	ENSP00000514751.1:n.1267T>G
ENST00000700004.1:c.2585T>G (MSH6)	ENSP00000514752.1:p.Val862Gly
ENST00000700005.1:n.2663T>G (MSH6)
ENST00000700006.1:n.4970T>G (MSH6)
ENST00000700007.1:n.2407T>G (MSH6)
ENST00000700008.1:n.2074T>G (MSH6)
ENST00000700009.1:n.2476T>G (MSH6)
ENST00000700010.1:n.1221T>G (MSH6)
ENST00000700011.1:n.3106T>G (MSH6)
ENST00000682451.1:n.4286A>C (FBXO11)
ENST00000684712.1:n.4548A>C (FBXO11)
ENST00000234420.11:c.3812T>G (MSH6) MANE Select	ENSP00000234420.5:p.Val1271Gly
ENST00000540021.6:c.3422T>G (MSH6)	ENSP00000446475.1:p.Val1141Gly
ENST00000652107.1:c.3515T>G (MSH6)	ENSP00000498629.1:p.Val1172Gly
ENST00000673637.1:c.3515T>G (MSH6)	ENSP00000501310.1:p.Val1172Gly
ENST00000234420.9:c.3812T>G (MSH6)	ENSP00000234420.4:p.Val1271Gly
ENST00000405808.5:c.169+1733A>C (FBXO11)	ENSP00000385127.1:n.169+1733A>C
ENST00000434234.5:c.*124+1532A>C (FBXO11)	ENSP00000402692.1:n.*124+1532A>C
ENST00000445503.5:c.*3159T>G (MSH6)	ENSP00000405294.1:n.*3159T>G
ENST00000538136.1:c.2906T>G (MSH6)	ENSP00000438580.1:p.Val969Gly
ENST00000540021.5:c.3422T>G (MSH6)	ENSP00000446475.1:p.Val1141Gly
ENST00000614496.4:c.2906T>G (MSH6)	ENSP00000477844.1:p.Val969Gly
ENST00000622629.4:c.713T>G (MSH6)	ENSP00000482078.1:p.Val238Gly
NM_000179.2:c.3812T>G , LRG_219t1:c.3812T>G (MSH6)	NP_000170.1:p.Val1271Gly
NM_001281492.1:c.3422T>G (MSH6)	NP_001268421.1:p.Val1141Gly
NM_001281493.1:c.2906T>G (MSH6)	NP_001268422.1:p.Val969Gly
NM_001281494.1:c.2906T>G (MSH6)	NP_001268423.1:p.Val969Gly
XM_005264271.1:c.3515T>G (MSH6)	XP_005264328.1:p.Val1172Gly
XM_011532798.1:c.3629T>G (MSH6)	XP_011531100.1:p.Val1210Gly
XM_011532799.1:c.3515T>G (MSH6)	XP_011531101.1:p.Val1172Gly
XM_011532800.1:c.3515T>G (MSH6)	XP_011531102.1:p.Val1172Gly
XM_024452819.1:c.3905T>G (MSH6)	XP_024308587.1:p.Val1302Gly
XM_024452820.1:c.3722T>G (MSH6)	XP_024308588.1:p.Val1241Gly
XM_024452821.1:c.3608T>G (MSH6)	XP_024308589.1:p.Val1203Gly
XM_024452822.1:c.2999T>G (MSH6)	XP_024308590.1:p.Val1000Gly
NM_000179.3:c.3812T>G (MSH6) MANE Select	NP_000170.1:p.Val1271Gly
NM_001281492.2:c.3422T>G (MSH6)	NP_001268421.1:p.Val1141Gly
NM_001281493.2:c.2906T>G (MSH6)	NP_001268422.1:p.Val969Gly
NM_001281494.2:c.2906T>G (MSH6)	NP_001268423.1:p.Val969Gly