Canonical Allele Identifier: CA1977531966

Gene: BEST1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61958296A= , CM000673.2:g.61958296A=	GRCh38
NC_000011.9:g.61725768A= , CM000673.1:g.61725768A=	GRCh37
NC_000011.8:g.61482344A=	NCBI36
NG_009033.1:g.13413A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.865A= MANE Select	ENSP00000367282.4:p.Lys289=
ENST00000378043.8:c.865A=	ENSP00000367282.4:p.Lys289=
ENST00000449131.6:c.685A=	ENSP00000399709.2:p.Lys229=
ENST00000524877.5:n.1297A=
ENST00000524926.5:c.865A=	ENSP00000432681.1:p.Lys289=
ENST00000526988.1:c.547A=	ENSP00000433195.1:p.Lys183=
ENST00000529265.5:n.788A=
ENST00000534553.5:c.163+2345A=	ENSP00000431189.1:n.163+2345A=
NM_001139443.1:c.685A=	NP_001132915.1:p.Lys229=
NM_001300786.1:c.685A=	NP_001287715.1:p.Lys229=
NM_001300787.1:c.685A=	NP_001287716.1:p.Lys229=
NM_004183.3:c.865A=	NP_004174.1:p.Lys289=
XM_005274210.2:c.865A=	XP_005274267.1:p.Lys289=
XM_005274215.2:c.547A=	XP_005274272.1:p.Lys183=
XM_005274216.2:c.685A=	XP_005274273.1:p.Lys229=
XM_005274218.3:c.547A=	XP_005274275.1:p.Lys183=
XM_005274219.2:c.865A=	XP_005274276.1:p.Lys289=
XM_005274221.2:c.714+832A=	XP_005274278.1:n.714+832A=
XM_011545229.1:c.865A=	XP_011543531.1:p.Lys289=
XM_011545230.1:c.772A=	XP_011543532.1:p.Lys258=
XM_011545231.1:c.547A=	XP_011543533.1:p.Lys183=
XM_011545232.1:c.865A=	XP_011543534.1:p.Lys289=
NM_001363591.1:c.547A=	NP_001350520.1:p.Lys183=
NM_001363592.1:c.865A=	NP_001350521.1:p.Lys289=
NM_001363593.1:c.-311A=	NP_001350522.1:n.-311A=
NR_134580.1:n.1445A=
XM_005274210.4:c.865A=	XP_005274267.1:p.Lys289=
XM_005274215.4:c.547A=	XP_005274272.1:p.Lys183=
XM_005274216.4:c.685A=	XP_005274273.1:p.Lys229=
XM_005274219.4:c.865A=	XP_005274276.1:p.Lys289=
XM_005274221.4:c.714+832A=	XP_005274278.1:n.714+832A=
XM_011545229.3:c.865A=	XP_011543531.1:p.Lys289=
XM_011545230.3:c.772A=	XP_011543532.1:p.Lys258=
XM_017018230.2:c.547A=	XP_016873719.1:p.Lys183=
XR_001747952.2:n.1363A=
XR_001747953.2:n.1555A=
XR_001747954.2:n.1404+832A=
XR_001748245.1:n.433T=
XR_002957249.1:n.433T=
NM_004183.4:c.865A= MANE Select	NP_004174.1:p.Lys289=
NM_001139443.2:c.685A=	NP_001132915.1:p.Lys229=
NM_001300786.2:c.685A=	NP_001287715.1:p.Lys229=
NM_001300787.2:c.685A=	NP_001287716.1:p.Lys229=
NM_001363591.2:c.547A=	NP_001350520.1:p.Lys183=
NM_001363593.2:c.-311A=	NP_001350522.1:n.-311A=
NR_134580.2:n.978A=