Canonical Allele Identifier: CA380843799

Gene: BEST1

Linked Data

• MyVariant Identifiers: chr11:g.61726996T>A (hg19) ; chr11:g.61959524T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959524T>A , CM000673.2:g.61959524T>A	GRCh38
NC_000011.9:g.61726996T>A , CM000673.1:g.61726996T>A	GRCh37
NC_000011.8:g.61483572T>A	NCBI36
NG_009033.1:g.14641T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.894T>A MANE Select	ENSP00000367282.4:p.Phe298Leu
ENST00000378043.8:c.894T>A	ENSP00000367282.4:p.Phe298Leu
ENST00000449131.6:c.714T>A	ENSP00000399709.2:p.Phe238Leu
ENST00000524877.5:n.2525T>A
ENST00000524926.5:c.1097T>A	ENSP00000432681.1:p.Leu366Ter
ENST00000526988.1:c.779T>A	ENSP00000433195.1:p.Leu260Ter
ENST00000534553.5:c.164-2731T>A	ENSP00000431189.1:n.164-2731T>A
NM_001139443.1:c.714T>A	NP_001132915.1:p.Phe238Leu
NM_001300786.1:c.688-368T>A	NP_001287715.1:n.688-368T>A
NM_001300787.1:c.714T>A	NP_001287716.1:p.Phe238Leu
NM_004183.3:c.894T>A	NP_004174.1:p.Phe298Leu
XM_005274210.2:c.894T>A	XP_005274267.1:p.Phe298Leu
XM_005274215.2:c.576T>A	XP_005274272.1:p.Phe192Leu
XM_005274216.2:c.917T>A	XP_005274273.1:p.Leu306Ter
XM_005274218.3:c.779T>A	XP_005274275.1:p.Leu260Ter
XM_005274219.2:c.867+1226T>A	XP_005274276.1:n.867+1226T>A
XM_005274221.2:c.714+2060T>A	XP_005274278.1:n.714+2060T>A
XM_011545229.1:c.894T>A	XP_011543531.1:p.Phe298Leu
XM_011545230.1:c.801T>A	XP_011543532.1:p.Phe267Leu
XM_011545231.1:c.576T>A	XP_011543533.1:p.Phe192Leu
XM_011545232.1:c.1097T>A	XP_011543534.1:p.Leu366Ter
XM_011545233.1:c.51T>A	XP_011543535.1:p.Phe17Leu
NM_001363591.1:c.576T>A	NP_001350520.1:p.Phe192Leu
NM_001363592.1:c.1097T>A	NP_001350521.1:p.Leu366Ter
NM_001363593.1:c.-79T>A	NP_001350522.1:n.-79T>A
NR_134580.1:n.1677T>A
XM_005274210.4:c.894T>A	XP_005274267.1:p.Phe298Leu
XM_005274215.4:c.576T>A	XP_005274272.1:p.Phe192Leu
XM_005274216.4:c.917T>A	XP_005274273.1:p.Leu306Ter
XM_005274219.4:c.867+1226T>A	XP_005274276.1:n.867+1226T>A
XM_005274221.4:c.714+2060T>A	XP_005274278.1:n.714+2060T>A
XM_011545229.3:c.894T>A	XP_011543531.1:p.Phe298Leu
XM_011545230.3:c.801T>A	XP_011543532.1:p.Phe267Leu
XM_011545233.3:c.51T>A	XP_011543535.1:p.Phe17Leu
XM_017018230.2:c.779T>A	XP_016873719.1:p.Leu260Ter
XR_001747952.2:n.1595T>A
XR_001747953.2:n.1557+1226T>A
XR_001747954.2:n.1404+2060T>A
XR_001748245.1:n.196+208A>T
XR_002957249.1:n.196+208A>T
NM_004183.4:c.894T>A MANE Select	NP_004174.1:p.Phe298Leu
NM_001139443.2:c.714T>A	NP_001132915.1:p.Phe238Leu
NM_001300786.2:c.688-368T>A	NP_001287715.1:n.688-368T>A
NM_001300787.2:c.714T>A	NP_001287716.1:p.Phe238Leu
NM_001363591.2:c.576T>A	NP_001350520.1:p.Phe192Leu
NM_001363593.2:c.-79T>A	NP_001350522.1:n.-79T>A
NR_134580.2:n.1210T>A