Canonical Allele Identifier: CA1977534028

Gene: BEST1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959526G= , CM000673.2:g.61959526G=	GRCh38
NC_000011.9:g.61726998G= , CM000673.1:g.61726998G=	GRCh37
NC_000011.8:g.61483574G=	NCBI36
NG_009033.1:g.14643G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.896G= MANE Select	ENSP00000367282.4:p.Gly299=
ENST00000378043.8:c.896G=	ENSP00000367282.4:p.Gly299=
ENST00000449131.6:c.716G=	ENSP00000399709.2:p.Gly239=
ENST00000524877.5:n.2527G=
ENST00000524926.5:c.1099G=	ENSP00000432681.1:p.Glu367=
ENST00000526988.1:c.781G=	ENSP00000433195.1:p.Glu261=
ENST00000534553.5:c.164-2729G=	ENSP00000431189.1:n.164-2729G=
NM_001139443.1:c.716G=	NP_001132915.1:p.Gly239=
NM_001300786.1:c.688-366G=	NP_001287715.1:n.688-366G=
NM_001300787.1:c.716G=	NP_001287716.1:p.Gly239=
NM_004183.3:c.896G=	NP_004174.1:p.Gly299=
XM_005274210.2:c.896G=	XP_005274267.1:p.Gly299=
XM_005274215.2:c.578G=	XP_005274272.1:p.Gly193=
XM_005274216.2:c.919G=	XP_005274273.1:p.Glu307=
XM_005274218.3:c.781G=	XP_005274275.1:p.Glu261=
XM_005274219.2:c.867+1228G=	XP_005274276.1:n.867+1228G=
XM_005274221.2:c.714+2062G=	XP_005274278.1:n.714+2062G=
XM_011545229.1:c.896G=	XP_011543531.1:p.Gly299=
XM_011545230.1:c.803G=	XP_011543532.1:p.Gly268=
XM_011545231.1:c.578G=	XP_011543533.1:p.Gly193=
XM_011545232.1:c.1099G=	XP_011543534.1:p.Glu367=
XM_011545233.1:c.53G=	XP_011543535.1:p.Gly18=
NM_001363591.1:c.578G=	NP_001350520.1:p.Gly193=
NM_001363592.1:c.1099G=	NP_001350521.1:p.Glu367=
NM_001363593.1:c.-77G=	NP_001350522.1:n.-77G=
NR_134580.1:n.1679G=
XM_005274210.4:c.896G=	XP_005274267.1:p.Gly299=
XM_005274215.4:c.578G=	XP_005274272.1:p.Gly193=
XM_005274216.4:c.919G=	XP_005274273.1:p.Glu307=
XM_005274219.4:c.867+1228G=	XP_005274276.1:n.867+1228G=
XM_005274221.4:c.714+2062G=	XP_005274278.1:n.714+2062G=
XM_011545229.3:c.896G=	XP_011543531.1:p.Gly299=
XM_011545230.3:c.803G=	XP_011543532.1:p.Gly268=
XM_011545233.3:c.53G=	XP_011543535.1:p.Gly18=
XM_017018230.2:c.781G=	XP_016873719.1:p.Glu261=
XR_001747952.2:n.1597G=
XR_001747953.2:n.1557+1228G=
XR_001747954.2:n.1404+2062G=
XR_001748245.1:n.196+206C=
XR_002957249.1:n.196+206C=
NM_004183.4:c.896G= MANE Select	NP_004174.1:p.Gly299=
NM_001139443.2:c.716G=	NP_001132915.1:p.Gly239=
NM_001300786.2:c.688-366G=	NP_001287715.1:n.688-366G=
NM_001300787.2:c.716G=	NP_001287716.1:p.Gly239=
NM_001363591.2:c.578G=	NP_001350520.1:p.Gly193=
NM_001363593.2:c.-77G=	NP_001350522.1:n.-77G=
NR_134580.2:n.1212G=