Canonical Allele Identifier: CA233532

Gene: BEST1

Linked Data

• ClinVar Variation Id: 166746
• ClinVar RCV Id: RCV000723944 ; RCV001270355 ; RCV001262506
• dbSNP Id: rs727503824
• MyVariant Identifiers: chr11:g.61725754A>G (hg19) ; chr11:g.61958282A>G (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61958282A>G , CM000673.2:g.61958282A>G	GRCh38
NC_000011.9:g.61725754A>G , CM000673.1:g.61725754A>G	GRCh37
NC_000011.8:g.61482330A>G	NCBI36
NG_009033.1:g.13399A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.851A>G MANE Select	ENSP00000367282.4:p.Tyr284Cys
ENST00000378043.8:c.851A>G	ENSP00000367282.4:p.Tyr284Cys
ENST00000449131.6:c.671A>G	ENSP00000399709.2:p.Tyr224Cys
ENST00000524877.5:n.1283A>G
ENST00000524926.5:c.851A>G	ENSP00000432681.1:p.Tyr284Cys
ENST00000526988.1:c.533A>G	ENSP00000433195.1:p.Tyr178Cys
ENST00000529265.5:n.774A>G
ENST00000534553.5:c.163+2331A>G	ENSP00000431189.1:n.163+2331A>G
NM_001139443.1:c.671A>G	NP_001132915.1:p.Tyr224Cys
NM_001300786.1:c.671A>G	NP_001287715.1:p.Tyr224Cys
NM_001300787.1:c.671A>G	NP_001287716.1:p.Tyr224Cys
NM_004183.3:c.851A>G	NP_004174.1:p.Tyr284Cys
XM_005274210.2:c.851A>G	XP_005274267.1:p.Tyr284Cys
XM_005274215.2:c.533A>G	XP_005274272.1:p.Tyr178Cys
XM_005274216.2:c.671A>G	XP_005274273.1:p.Tyr224Cys
XM_005274218.3:c.533A>G	XP_005274275.1:p.Tyr178Cys
XM_005274219.2:c.851A>G	XP_005274276.1:p.Tyr284Cys
XM_005274221.2:c.714+818A>G	XP_005274278.1:n.714+818A>G
XM_011545229.1:c.851A>G	XP_011543531.1:p.Tyr284Cys
XM_011545230.1:c.758A>G	XP_011543532.1:p.Tyr253Cys
XM_011545231.1:c.533A>G	XP_011543533.1:p.Tyr178Cys
XM_011545232.1:c.851A>G	XP_011543534.1:p.Tyr284Cys
NM_001363591.1:c.533A>G	NP_001350520.1:p.Tyr178Cys
NM_001363592.1:c.851A>G	NP_001350521.1:p.Tyr284Cys
NM_001363593.1:c.-325A>G	NP_001350522.1:n.-325A>G
NR_134580.1:n.1431A>G
XM_005274210.4:c.851A>G	XP_005274267.1:p.Tyr284Cys
XM_005274215.4:c.533A>G	XP_005274272.1:p.Tyr178Cys
XM_005274216.4:c.671A>G	XP_005274273.1:p.Tyr224Cys
XM_005274219.4:c.851A>G	XP_005274276.1:p.Tyr284Cys
XM_005274221.4:c.714+818A>G	XP_005274278.1:n.714+818A>G
XM_011545229.3:c.851A>G	XP_011543531.1:p.Tyr284Cys
XM_011545230.3:c.758A>G	XP_011543532.1:p.Tyr253Cys
XM_017018230.2:c.533A>G	XP_016873719.1:p.Tyr178Cys
XR_001747952.2:n.1349A>G
XR_001747953.2:n.1541A>G
XR_001747954.2:n.1404+818A>G
XR_001748245.1:n.447T>C
XR_002957249.1:n.447T>C
NM_004183.4:c.851A>G MANE Select	NP_004174.1:p.Tyr284Cys
NM_001139443.2:c.671A>G	NP_001132915.1:p.Tyr224Cys
NM_001300786.2:c.671A>G	NP_001287715.1:p.Tyr224Cys
NM_001300787.2:c.671A>G	NP_001287716.1:p.Tyr224Cys
NM_001363591.2:c.533A>G	NP_001350520.1:p.Tyr178Cys
NM_001363593.2:c.-325A>G	NP_001350522.1:n.-325A>G
NR_134580.2:n.964A>G