Canonical Allele Identifier: CA115733

Gene: BEST1

Linked Data

• ClinVar Variation Id: 2749
• ClinVar RCV Id: RCV000002873 ; RCV000002874 ; RCV000086158
• dbSNP Id: rs267606677
• MyVariant Identifiers: chr11:g.61724902A>G (hg19) ; chr11:g.61957430A>G (hg38)
• PubMed: PMID:9700209 ; PMID:19853238

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61957430A>G , CM000673.2:g.61957430A>G	GRCh38
NC_000011.9:g.61724902A>G , CM000673.1:g.61724902A>G	GRCh37
NC_000011.8:g.61481478A>G	NCBI36
NG_009033.1:g.12547A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.680A>G MANE Select	ENSP00000367282.4:p.Tyr227Cys
ENST00000378043.8:c.680A>G	ENSP00000367282.4:p.Tyr227Cys
ENST00000449131.6:c.500A>G	ENSP00000399709.2:p.Tyr167Cys
ENST00000524877.5:n.1112A>G
ENST00000524926.5:c.680A>G	ENSP00000432681.1:p.Tyr227Cys
ENST00000526988.1:c.362A>G	ENSP00000433195.1:p.Tyr121Cys
ENST00000529265.5:n.603A>G
ENST00000534553.5:c.163+1479A>G	ENSP00000431189.1:n.163+1479A>G
NM_001139443.1:c.500A>G	NP_001132915.1:p.Tyr167Cys
NM_001300786.1:c.500A>G	NP_001287715.1:p.Tyr167Cys
NM_001300787.1:c.500A>G	NP_001287716.1:p.Tyr167Cys
NM_004183.3:c.680A>G	NP_004174.1:p.Tyr227Cys
XM_005274210.2:c.680A>G	XP_005274267.1:p.Tyr227Cys
XM_005274215.2:c.362A>G	XP_005274272.1:p.Tyr121Cys
XM_005274216.2:c.500A>G	XP_005274273.1:p.Tyr167Cys
XM_005274218.3:c.362A>G	XP_005274275.1:p.Tyr121Cys
XM_005274219.2:c.680A>G	XP_005274276.1:p.Tyr227Cys
XM_005274221.2:c.680A>G	XP_005274278.1:p.Tyr227Cys
XM_011545229.1:c.680A>G	XP_011543531.1:p.Tyr227Cys
XM_011545230.1:c.587A>G	XP_011543532.1:p.Tyr196Cys
XM_011545231.1:c.362A>G	XP_011543533.1:p.Tyr121Cys
XM_011545232.1:c.680A>G	XP_011543534.1:p.Tyr227Cys
NM_001363591.1:c.362A>G	NP_001350520.1:p.Tyr121Cys
NM_001363592.1:c.680A>G	NP_001350521.1:p.Tyr227Cys
NM_001363593.1:c.-496A>G	NP_001350522.1:n.-496A>G
NR_134580.1:n.1260A>G
XM_005274210.4:c.680A>G	XP_005274267.1:p.Tyr227Cys
XM_005274215.4:c.362A>G	XP_005274272.1:p.Tyr121Cys
XM_005274216.4:c.500A>G	XP_005274273.1:p.Tyr167Cys
XM_005274219.4:c.680A>G	XP_005274276.1:p.Tyr227Cys
XM_005274221.4:c.680A>G	XP_005274278.1:p.Tyr227Cys
XM_011545229.3:c.680A>G	XP_011543531.1:p.Tyr227Cys
XM_011545230.3:c.587A>G	XP_011543532.1:p.Tyr196Cys
XM_017018230.2:c.362A>G	XP_016873719.1:p.Tyr121Cys
XR_001747952.2:n.1178A>G
XR_001747953.2:n.1370A>G
XR_001747954.2:n.1370A>G
XR_001748245.1:n.1299T>C
XR_002957249.1:n.506-198T>C
NM_004183.4:c.680A>G MANE Select	NP_004174.1:p.Tyr227Cys
NM_001139443.2:c.500A>G	NP_001132915.1:p.Tyr167Cys
NM_001300786.2:c.500A>G	NP_001287715.1:p.Tyr167Cys
NM_001300787.2:c.500A>G	NP_001287716.1:p.Tyr167Cys
NM_001363591.2:c.362A>G	NP_001350520.1:p.Tyr121Cys
NM_001363593.2:c.-496A>G	NP_001350522.1:n.-496A>G
NR_134580.2:n.793A>G