Canonical Allele Identifier: CA1977534248

Gene: BEST1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959563C= , CM000673.2:g.61959563C=	GRCh38
NC_000011.9:g.61727035C= , CM000673.1:g.61727035C=	GRCh37
NC_000011.8:g.61483611C=	NCBI36
NG_009033.1:g.14680C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.933C= MANE Select	ENSP00000367282.4:p.Val311=
ENST00000378043.8:c.933C=	ENSP00000367282.4:p.Val311=
ENST00000449131.6:c.753C=	ENSP00000399709.2:p.Val251=
ENST00000524877.5:n.2564C=
ENST00000524926.5:c.1136C=	ENSP00000432681.1:p.Ser379=
ENST00000526988.1:c.818C=	ENSP00000433195.1:p.Ser273=
ENST00000534553.5:c.164-2692C=	ENSP00000431189.1:n.164-2692C=
NM_001139443.1:c.753C=	NP_001132915.1:p.Val251=
NM_001300786.1:c.688-329C=	NP_001287715.1:n.688-329C=
NM_001300787.1:c.753C=	NP_001287716.1:p.Val251=
NM_004183.3:c.933C=	NP_004174.1:p.Val311=
XM_005274210.2:c.933C=	XP_005274267.1:p.Val311=
XM_005274215.2:c.615C=	XP_005274272.1:p.Val205=
XM_005274216.2:c.956C=	XP_005274273.1:p.Ser319=
XM_005274218.3:c.818C=	XP_005274275.1:p.Ser273=
XM_005274219.2:c.867+1265C=	XP_005274276.1:n.867+1265C=
XM_005274221.2:c.714+2099C=	XP_005274278.1:n.714+2099C=
XM_011545229.1:c.933C=	XP_011543531.1:p.Val311=
XM_011545230.1:c.840C=	XP_011543532.1:p.Val280=
XM_011545231.1:c.615C=	XP_011543533.1:p.Val205=
XM_011545232.1:c.1136C=	XP_011543534.1:p.Ser379=
XM_011545233.1:c.90C=	XP_011543535.1:p.Val30=
NM_001363591.1:c.615C=	NP_001350520.1:p.Val205=
NM_001363592.1:c.1136C=	NP_001350521.1:p.Ser379=
NM_001363593.1:c.-40C=	NP_001350522.1:n.-40C=
NR_134580.1:n.1716C=
XM_005274210.4:c.933C=	XP_005274267.1:p.Val311=
XM_005274215.4:c.615C=	XP_005274272.1:p.Val205=
XM_005274216.4:c.956C=	XP_005274273.1:p.Ser319=
XM_005274219.4:c.867+1265C=	XP_005274276.1:n.867+1265C=
XM_005274221.4:c.714+2099C=	XP_005274278.1:n.714+2099C=
XM_011545229.3:c.933C=	XP_011543531.1:p.Val311=
XM_011545230.3:c.840C=	XP_011543532.1:p.Val280=
XM_011545233.3:c.90C=	XP_011543535.1:p.Val30=
XM_017018230.2:c.818C=	XP_016873719.1:p.Ser273=
XR_001747952.2:n.1634C=
XR_001747953.2:n.1557+1265C=
XR_001747954.2:n.1404+2099C=
XR_001748245.1:n.196+169G=
XR_002957249.1:n.196+169G=
NM_004183.4:c.933C= MANE Select	NP_004174.1:p.Val311=
NM_001139443.2:c.753C=	NP_001132915.1:p.Val251=
NM_001300786.2:c.688-329C=	NP_001287715.1:n.688-329C=
NM_001300787.2:c.753C=	NP_001287716.1:p.Val251=
NM_001363591.2:c.615C=	NP_001350520.1:p.Val205=
NM_001363593.2:c.-40C=	NP_001350522.1:n.-40C=
NR_134580.2:n.1249C=