Canonical Allele Identifier: CA380843617

Gene: BEST1

Linked Data

• dbSNP Id: rs1164025152
• MyVariant Identifiers: chr11:g.61726975A>T (hg19) ; chr11:g.61959503A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959503A>T , CM000673.2:g.61959503A>T	GRCh38
NC_000011.9:g.61726975A>T , CM000673.1:g.61726975A>T	GRCh37
NC_000011.8:g.61483551A>T	NCBI36
NG_009033.1:g.14620A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.873A>T MANE Select	ENSP00000367282.4:p.Ala291=
ENST00000378043.8:c.873A>T	ENSP00000367282.4:p.Ala291=
ENST00000449131.6:c.693A>T	ENSP00000399709.2:p.Ala231=
ENST00000524877.5:n.2504A>T
ENST00000524926.5:c.1076A>T	ENSP00000432681.1:p.Gln359Leu
ENST00000526988.1:c.758A>T	ENSP00000433195.1:p.Gln253Leu
ENST00000534553.5:c.164-2752A>T	ENSP00000431189.1:n.164-2752A>T
NM_001139443.1:c.693A>T	NP_001132915.1:p.Ala231=
NM_001300786.1:c.688-389A>T	NP_001287715.1:n.688-389A>T
NM_001300787.1:c.693A>T	NP_001287716.1:p.Ala231=
NM_004183.3:c.873A>T	NP_004174.1:p.Ala291=
XM_005274210.2:c.873A>T	XP_005274267.1:p.Ala291=
XM_005274215.2:c.555A>T	XP_005274272.1:p.Ala185=
XM_005274216.2:c.896A>T	XP_005274273.1:p.Gln299Leu
XM_005274218.3:c.758A>T	XP_005274275.1:p.Gln253Leu
XM_005274219.2:c.867+1205A>T	XP_005274276.1:n.867+1205A>T
XM_005274221.2:c.714+2039A>T	XP_005274278.1:n.714+2039A>T
XM_011545229.1:c.873A>T	XP_011543531.1:p.Ala291=
XM_011545230.1:c.780A>T	XP_011543532.1:p.Ala260=
XM_011545231.1:c.555A>T	XP_011543533.1:p.Ala185=
XM_011545232.1:c.1076A>T	XP_011543534.1:p.Gln359Leu
XM_011545233.1:c.30A>T	XP_011543535.1:p.Ala10=
NM_001363591.1:c.555A>T	NP_001350520.1:p.Ala185=
NM_001363592.1:c.1076A>T	NP_001350521.1:p.Gln359Leu
NM_001363593.1:c.-100A>T	NP_001350522.1:n.-100A>T
NR_134580.1:n.1656A>T
XM_005274210.4:c.873A>T	XP_005274267.1:p.Ala291=
XM_005274215.4:c.555A>T	XP_005274272.1:p.Ala185=
XM_005274216.4:c.896A>T	XP_005274273.1:p.Gln299Leu
XM_005274219.4:c.867+1205A>T	XP_005274276.1:n.867+1205A>T
XM_005274221.4:c.714+2039A>T	XP_005274278.1:n.714+2039A>T
XM_011545229.3:c.873A>T	XP_011543531.1:p.Ala291=
XM_011545230.3:c.780A>T	XP_011543532.1:p.Ala260=
XM_011545233.3:c.30A>T	XP_011543535.1:p.Ala10=
XM_017018230.2:c.758A>T	XP_016873719.1:p.Gln253Leu
XR_001747952.2:n.1574A>T
XR_001747953.2:n.1557+1205A>T
XR_001747954.2:n.1404+2039A>T
XR_001748245.1:n.196+229T>A
XR_002957249.1:n.196+229T>A
NM_004183.4:c.873A>T MANE Select	NP_004174.1:p.Ala291=
NM_001139443.2:c.693A>T	NP_001132915.1:p.Ala231=
NM_001300786.2:c.688-389A>T	NP_001287715.1:n.688-389A>T
NM_001300787.2:c.693A>T	NP_001287716.1:p.Ala231=
NM_001363591.2:c.555A>T	NP_001350520.1:p.Ala185=
NM_001363593.2:c.-100A>T	NP_001350522.1:n.-100A>T
NR_134580.2:n.1189A>T