Canonical Allele Identifier: CA380843633

Gene: BEST1

Linked Data

• MyVariant Identifiers: chr11:g.61726977A>G (hg19) ; chr11:g.61959505A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959505A>G , CM000673.2:g.61959505A>G	GRCh38
NC_000011.9:g.61726977A>G , CM000673.1:g.61726977A>G	GRCh37
NC_000011.8:g.61483553A>G	NCBI36
NG_009033.1:g.14622A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000378043.9:c.875A>G MANE Select	ENSP00000367282.4:p.Glu292Gly
ENST00000378043.8:c.875A>G	ENSP00000367282.4:p.Glu292Gly
ENST00000449131.6:c.695A>G	ENSP00000399709.2:p.Glu232Gly
ENST00000524877.5:n.2506A>G
ENST00000524926.5:c.1078A>G	ENSP00000432681.1:p.Ser360Gly
ENST00000526988.1:c.760A>G	ENSP00000433195.1:p.Ser254Gly
ENST00000534553.5:c.164-2750A>G	ENSP00000431189.1:n.164-2750A>G
NM_001139443.1:c.695A>G	NP_001132915.1:p.Glu232Gly
NM_001300786.1:c.688-387A>G	NP_001287715.1:n.688-387A>G
NM_001300787.1:c.695A>G	NP_001287716.1:p.Glu232Gly
NM_004183.3:c.875A>G	NP_004174.1:p.Glu292Gly
XM_005274210.2:c.875A>G	XP_005274267.1:p.Glu292Gly
XM_005274215.2:c.557A>G	XP_005274272.1:p.Glu186Gly
XM_005274216.2:c.898A>G	XP_005274273.1:p.Ser300Gly
XM_005274218.3:c.760A>G	XP_005274275.1:p.Ser254Gly
XM_005274219.2:c.867+1207A>G	XP_005274276.1:n.867+1207A>G
XM_005274221.2:c.714+2041A>G	XP_005274278.1:n.714+2041A>G
XM_011545229.1:c.875A>G	XP_011543531.1:p.Glu292Gly
XM_011545230.1:c.782A>G	XP_011543532.1:p.Glu261Gly
XM_011545231.1:c.557A>G	XP_011543533.1:p.Glu186Gly
XM_011545232.1:c.1078A>G	XP_011543534.1:p.Ser360Gly
XM_011545233.1:c.32A>G	XP_011543535.1:p.Glu11Gly
NM_001363591.1:c.557A>G	NP_001350520.1:p.Glu186Gly
NM_001363592.1:c.1078A>G	NP_001350521.1:p.Ser360Gly
NM_001363593.1:c.-98A>G	NP_001350522.1:n.-98A>G
NR_134580.1:n.1658A>G
XM_005274210.4:c.875A>G	XP_005274267.1:p.Glu292Gly
XM_005274215.4:c.557A>G	XP_005274272.1:p.Glu186Gly
XM_005274216.4:c.898A>G	XP_005274273.1:p.Ser300Gly
XM_005274219.4:c.867+1207A>G	XP_005274276.1:n.867+1207A>G
XM_005274221.4:c.714+2041A>G	XP_005274278.1:n.714+2041A>G
XM_011545229.3:c.875A>G	XP_011543531.1:p.Glu292Gly
XM_011545230.3:c.782A>G	XP_011543532.1:p.Glu261Gly
XM_011545233.3:c.32A>G	XP_011543535.1:p.Glu11Gly
XM_017018230.2:c.760A>G	XP_016873719.1:p.Ser254Gly
XR_001747952.2:n.1576A>G
XR_001747953.2:n.1557+1207A>G
XR_001747954.2:n.1404+2041A>G
XR_001748245.1:n.196+227T>C
XR_002957249.1:n.196+227T>C
NM_004183.4:c.875A>G MANE Select	NP_004174.1:p.Glu292Gly
NM_001139443.2:c.695A>G	NP_001132915.1:p.Glu232Gly
NM_001300786.2:c.688-387A>G	NP_001287715.1:n.688-387A>G
NM_001300787.2:c.695A>G	NP_001287716.1:p.Glu232Gly
NM_001363591.2:c.557A>G	NP_001350520.1:p.Glu186Gly
NM_001363593.2:c.-98A>G	NP_001350522.1:n.-98A>G
NR_134580.2:n.1191A>G