Canonical Allele Identifier: CA1977528256

Gene: BEST1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61955843C= , CM000673.2:g.61955843C=	GRCh38
NC_000011.9:g.61723315C= , CM000673.1:g.61723315C=	GRCh37
NC_000011.8:g.61479891C=	NCBI36
NG_009033.1:g.10960C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.373C= MANE Select	ENSP00000367282.4:p.Arg125=
ENST00000378043.8:c.373C=	ENSP00000367282.4:p.Arg125=
ENST00000449131.6:c.193C=	ENSP00000399709.2:p.Arg65=
ENST00000524877.5:n.805C=
ENST00000524926.5:c.373C=	ENSP00000432681.1:p.Arg125=
ENST00000526988.1:c.55C=	ENSP00000433195.1:p.Arg19=
ENST00000529265.5:n.296C=
ENST00000533521.5:n.997C=
ENST00000534553.5:c.55C=	ENSP00000431189.1:p.Arg19=
NM_001139443.1:c.193C=	NP_001132915.1:p.Arg65=
NM_001300786.1:c.193C=	NP_001287715.1:p.Arg65=
NM_001300787.1:c.193C=	NP_001287716.1:p.Arg65=
NM_004183.3:c.373C=	NP_004174.1:p.Arg125=
XM_005274210.2:c.373C=	XP_005274267.1:p.Arg125=
XM_005274215.2:c.55C=	XP_005274272.1:p.Arg19=
XM_005274216.2:c.193C=	XP_005274273.1:p.Arg65=
XM_005274218.3:c.55C=	XP_005274275.1:p.Arg19=
XM_005274219.2:c.373C=	XP_005274276.1:p.Arg125=
XM_005274221.2:c.373C=	XP_005274278.1:p.Arg125=
XM_011545229.1:c.373C=	XP_011543531.1:p.Arg125=
XM_011545230.1:c.280C=	XP_011543532.1:p.Arg94=
XM_011545231.1:c.55C=	XP_011543533.1:p.Arg19=
XM_011545232.1:c.373C=	XP_011543534.1:p.Arg125=
NM_001363591.1:c.55C=	NP_001350520.1:p.Arg19=
NM_001363592.1:c.373C=	NP_001350521.1:p.Arg125=
NM_001363593.1:c.-803C=	NP_001350522.1:n.-803C=
NR_134580.1:n.953C=
XM_005274210.4:c.373C=	XP_005274267.1:p.Arg125=
XM_005274215.4:c.55C=	XP_005274272.1:p.Arg19=
XM_005274216.4:c.193C=	XP_005274273.1:p.Arg65=
XM_005274219.4:c.373C=	XP_005274276.1:p.Arg125=
XM_005274221.4:c.373C=	XP_005274278.1:p.Arg125=
XM_011545229.3:c.373C=	XP_011543531.1:p.Arg125=
XM_011545230.3:c.280C=	XP_011543532.1:p.Arg94=
XM_017018230.2:c.55C=	XP_016873719.1:p.Arg19=
XR_001747952.2:n.871C=
XR_001747953.2:n.1063C=
XR_001747954.2:n.1063C=
XR_002957249.1:n.1895G=
NM_004183.4:c.373C= MANE Select	NP_004174.1:p.Arg125=
NM_001139443.2:c.193C=	NP_001132915.1:p.Arg65=
NM_001300786.2:c.193C=	NP_001287715.1:p.Arg65=
NM_001300787.2:c.193C=	NP_001287716.1:p.Arg65=
NM_001363591.2:c.55C=	NP_001350520.1:p.Arg19=
NM_001363593.2:c.-803C=	NP_001350522.1:n.-803C=
NR_134580.2:n.486C=