Canonical Allele Identifier: CA227848

Gene: BEST1

Linked Data

• ClinVar Variation Id: 99776
• ClinVar RCV Id: RCV000086195
• dbSNP Id: rs281865263
• MyVariant Identifiers: chr11:g.61727007A>T (hg19) ; chr11:g.61959535A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959535A>T , CM000673.2:g.61959535A>T	GRCh38
NC_000011.9:g.61727007A>T , CM000673.1:g.61727007A>T	GRCh37
NC_000011.8:g.61483583A>T	NCBI36
NG_009033.1:g.14652A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.905A>T MANE Select	ENSP00000367282.4:p.Asp302Val
ENST00000378043.8:c.905A>T	ENSP00000367282.4:p.Asp302Val
ENST00000449131.6:c.725A>T	ENSP00000399709.2:p.Asp242Val
ENST00000524877.5:n.2536A>T
ENST00000524926.5:c.1108A>T	ENSP00000432681.1:p.Met370Leu
ENST00000526988.1:c.790A>T	ENSP00000433195.1:p.Met264Leu
ENST00000534553.5:c.164-2720A>T	ENSP00000431189.1:n.164-2720A>T
NM_001139443.1:c.725A>T	NP_001132915.1:p.Asp242Val
NM_001300786.1:c.688-357A>T	NP_001287715.1:n.688-357A>T
NM_001300787.1:c.725A>T	NP_001287716.1:p.Asp242Val
NM_004183.3:c.905A>T	NP_004174.1:p.Asp302Val
XM_005274210.2:c.905A>T	XP_005274267.1:p.Asp302Val
XM_005274215.2:c.587A>T	XP_005274272.1:p.Asp196Val
XM_005274216.2:c.928A>T	XP_005274273.1:p.Met310Leu
XM_005274218.3:c.790A>T	XP_005274275.1:p.Met264Leu
XM_005274219.2:c.867+1237A>T	XP_005274276.1:n.867+1237A>T
XM_005274221.2:c.714+2071A>T	XP_005274278.1:n.714+2071A>T
XM_011545229.1:c.905A>T	XP_011543531.1:p.Asp302Val
XM_011545230.1:c.812A>T	XP_011543532.1:p.Asp271Val
XM_011545231.1:c.587A>T	XP_011543533.1:p.Asp196Val
XM_011545232.1:c.1108A>T	XP_011543534.1:p.Met370Leu
XM_011545233.1:c.62A>T	XP_011543535.1:p.Asp21Val
NM_001363591.1:c.587A>T	NP_001350520.1:p.Asp196Val
NM_001363592.1:c.1108A>T	NP_001350521.1:p.Met370Leu
NM_001363593.1:c.-68A>T	NP_001350522.1:n.-68A>T
NR_134580.1:n.1688A>T
XM_005274210.4:c.905A>T	XP_005274267.1:p.Asp302Val
XM_005274215.4:c.587A>T	XP_005274272.1:p.Asp196Val
XM_005274216.4:c.928A>T	XP_005274273.1:p.Met310Leu
XM_005274219.4:c.867+1237A>T	XP_005274276.1:n.867+1237A>T
XM_005274221.4:c.714+2071A>T	XP_005274278.1:n.714+2071A>T
XM_011545229.3:c.905A>T	XP_011543531.1:p.Asp302Val
XM_011545230.3:c.812A>T	XP_011543532.1:p.Asp271Val
XM_011545233.3:c.62A>T	XP_011543535.1:p.Asp21Val
XM_017018230.2:c.790A>T	XP_016873719.1:p.Met264Leu
XR_001747952.2:n.1606A>T
XR_001747953.2:n.1557+1237A>T
XR_001747954.2:n.1404+2071A>T
XR_001748245.1:n.196+197T>A
XR_002957249.1:n.196+197T>A
NM_004183.4:c.905A>T MANE Select	NP_004174.1:p.Asp302Val
NM_001139443.2:c.725A>T	NP_001132915.1:p.Asp242Val
NM_001300786.2:c.688-357A>T	NP_001287715.1:n.688-357A>T
NM_001300787.2:c.725A>T	NP_001287716.1:p.Asp242Val
NM_001363591.2:c.587A>T	NP_001350520.1:p.Asp196Val
NM_001363593.2:c.-68A>T	NP_001350522.1:n.-68A>T
NR_134580.2:n.1221A>T