Canonical Allele Identifier: CA1977534049

Gene: BEST1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959530G= , CM000673.2:g.61959530G=	GRCh38
NC_000011.9:g.61727002G= , CM000673.1:g.61727002G=	GRCh37
NC_000011.8:g.61483578G=	NCBI36
NG_009033.1:g.14647G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.900G= MANE Select	ENSP00000367282.4:p.Glu300=
ENST00000378043.8:c.900G=	ENSP00000367282.4:p.Glu300=
ENST00000449131.6:c.720G=	ENSP00000399709.2:p.Glu240=
ENST00000524877.5:n.2531G=
ENST00000524926.5:c.1103G=	ENSP00000432681.1:p.Arg368=
ENST00000526988.1:c.785G=	ENSP00000433195.1:p.Arg262=
ENST00000534553.5:c.164-2725G=	ENSP00000431189.1:n.164-2725G=
NM_001139443.1:c.720G=	NP_001132915.1:p.Glu240=
NM_001300786.1:c.688-362G=	NP_001287715.1:n.688-362G=
NM_001300787.1:c.720G=	NP_001287716.1:p.Glu240=
NM_004183.3:c.900G=	NP_004174.1:p.Glu300=
XM_005274210.2:c.900G=	XP_005274267.1:p.Glu300=
XM_005274215.2:c.582G=	XP_005274272.1:p.Glu194=
XM_005274216.2:c.923G=	XP_005274273.1:p.Arg308=
XM_005274218.3:c.785G=	XP_005274275.1:p.Arg262=
XM_005274219.2:c.867+1232G=	XP_005274276.1:n.867+1232G=
XM_005274221.2:c.714+2066G=	XP_005274278.1:n.714+2066G=
XM_011545229.1:c.900G=	XP_011543531.1:p.Glu300=
XM_011545230.1:c.807G=	XP_011543532.1:p.Glu269=
XM_011545231.1:c.582G=	XP_011543533.1:p.Glu194=
XM_011545232.1:c.1103G=	XP_011543534.1:p.Arg368=
XM_011545233.1:c.57G=	XP_011543535.1:p.Glu19=
NM_001363591.1:c.582G=	NP_001350520.1:p.Glu194=
NM_001363592.1:c.1103G=	NP_001350521.1:p.Arg368=
NM_001363593.1:c.-73G=	NP_001350522.1:n.-73G=
NR_134580.1:n.1683G=
XM_005274210.4:c.900G=	XP_005274267.1:p.Glu300=
XM_005274215.4:c.582G=	XP_005274272.1:p.Glu194=
XM_005274216.4:c.923G=	XP_005274273.1:p.Arg308=
XM_005274219.4:c.867+1232G=	XP_005274276.1:n.867+1232G=
XM_005274221.4:c.714+2066G=	XP_005274278.1:n.714+2066G=
XM_011545229.3:c.900G=	XP_011543531.1:p.Glu300=
XM_011545230.3:c.807G=	XP_011543532.1:p.Glu269=
XM_011545233.3:c.57G=	XP_011543535.1:p.Glu19=
XM_017018230.2:c.785G=	XP_016873719.1:p.Arg262=
XR_001747952.2:n.1601G=
XR_001747953.2:n.1557+1232G=
XR_001747954.2:n.1404+2066G=
XR_001748245.1:n.196+202C=
XR_002957249.1:n.196+202C=
NM_004183.4:c.900G= MANE Select	NP_004174.1:p.Glu300=
NM_001139443.2:c.720G=	NP_001132915.1:p.Glu240=
NM_001300786.2:c.688-362G=	NP_001287715.1:n.688-362G=
NM_001300787.2:c.720G=	NP_001287716.1:p.Glu240=
NM_001363591.2:c.582G=	NP_001350520.1:p.Glu194=
NM_001363593.2:c.-73G=	NP_001350522.1:n.-73G=
NR_134580.2:n.1216G=