Canonical Allele Identifier: CA380843811

Gene: BEST1

Linked Data

• ClinVar Variation Id: 2735635
• ClinVar RCV Id: RCV003557611
• MyVariant Identifiers: chr11:g.61726997G>A (hg19) ; chr11:g.61959525G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959525G>A , CM000673.2:g.61959525G>A	GRCh38
NC_000011.9:g.61726997G>A , CM000673.1:g.61726997G>A	GRCh37
NC_000011.8:g.61483573G>A	NCBI36
NG_009033.1:g.14642G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.895G>A MANE Select	ENSP00000367282.4:p.Gly299Arg
ENST00000378043.8:c.895G>A	ENSP00000367282.4:p.Gly299Arg
ENST00000449131.6:c.715G>A	ENSP00000399709.2:p.Gly239Arg
ENST00000524877.5:n.2526G>A
ENST00000524926.5:c.1098G>A	ENSP00000432681.1:p.Leu366=
ENST00000526988.1:c.780G>A	ENSP00000433195.1:p.Leu260=
ENST00000534553.5:c.164-2730G>A	ENSP00000431189.1:n.164-2730G>A
NM_001139443.1:c.715G>A	NP_001132915.1:p.Gly239Arg
NM_001300786.1:c.688-367G>A	NP_001287715.1:n.688-367G>A
NM_001300787.1:c.715G>A	NP_001287716.1:p.Gly239Arg
NM_004183.3:c.895G>A	NP_004174.1:p.Gly299Arg
XM_005274210.2:c.895G>A	XP_005274267.1:p.Gly299Arg
XM_005274215.2:c.577G>A	XP_005274272.1:p.Gly193Arg
XM_005274216.2:c.918G>A	XP_005274273.1:p.Leu306=
XM_005274218.3:c.780G>A	XP_005274275.1:p.Leu260=
XM_005274219.2:c.867+1227G>A	XP_005274276.1:n.867+1227G>A
XM_005274221.2:c.714+2061G>A	XP_005274278.1:n.714+2061G>A
XM_011545229.1:c.895G>A	XP_011543531.1:p.Gly299Arg
XM_011545230.1:c.802G>A	XP_011543532.1:p.Gly268Arg
XM_011545231.1:c.577G>A	XP_011543533.1:p.Gly193Arg
XM_011545232.1:c.1098G>A	XP_011543534.1:p.Leu366=
XM_011545233.1:c.52G>A	XP_011543535.1:p.Gly18Arg
NM_001363591.1:c.577G>A	NP_001350520.1:p.Gly193Arg
NM_001363592.1:c.1098G>A	NP_001350521.1:p.Leu366=
NM_001363593.1:c.-78G>A	NP_001350522.1:n.-78G>A
NR_134580.1:n.1678G>A
XM_005274210.4:c.895G>A	XP_005274267.1:p.Gly299Arg
XM_005274215.4:c.577G>A	XP_005274272.1:p.Gly193Arg
XM_005274216.4:c.918G>A	XP_005274273.1:p.Leu306=
XM_005274219.4:c.867+1227G>A	XP_005274276.1:n.867+1227G>A
XM_005274221.4:c.714+2061G>A	XP_005274278.1:n.714+2061G>A
XM_011545229.3:c.895G>A	XP_011543531.1:p.Gly299Arg
XM_011545230.3:c.802G>A	XP_011543532.1:p.Gly268Arg
XM_011545233.3:c.52G>A	XP_011543535.1:p.Gly18Arg
XM_017018230.2:c.780G>A	XP_016873719.1:p.Leu260=
XR_001747952.2:n.1596G>A
XR_001747953.2:n.1557+1227G>A
XR_001747954.2:n.1404+2061G>A
XR_001748245.1:n.196+207C>T
XR_002957249.1:n.196+207C>T
NM_004183.4:c.895G>A MANE Select	NP_004174.1:p.Gly299Arg
NM_001139443.2:c.715G>A	NP_001132915.1:p.Gly239Arg
NM_001300786.2:c.688-367G>A	NP_001287715.1:n.688-367G>A
NM_001300787.2:c.715G>A	NP_001287716.1:p.Gly239Arg
NM_001363591.2:c.577G>A	NP_001350520.1:p.Gly193Arg
NM_001363593.2:c.-78G>A	NP_001350522.1:n.-78G>A
NR_134580.2:n.1211G>A