Canonical Allele Identifier: CA380843844

Gene: BEST1

Linked Data

• MyVariant Identifiers: chr11:g.61727002G>T (hg19) ; chr11:g.61959530G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959530G>T , CM000673.2:g.61959530G>T	GRCh38
NC_000011.9:g.61727002G>T , CM000673.1:g.61727002G>T	GRCh37
NC_000011.8:g.61483578G>T	NCBI36
NG_009033.1:g.14647G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.900G>T MANE Select	ENSP00000367282.4:p.Glu300Asp
ENST00000378043.8:c.900G>T	ENSP00000367282.4:p.Glu300Asp
ENST00000449131.6:c.720G>T	ENSP00000399709.2:p.Glu240Asp
ENST00000524877.5:n.2531G>T
ENST00000524926.5:c.1103G>T	ENSP00000432681.1:p.Arg368Met
ENST00000526988.1:c.785G>T	ENSP00000433195.1:p.Arg262Met
ENST00000534553.5:c.164-2725G>T	ENSP00000431189.1:n.164-2725G>T
NM_001139443.1:c.720G>T	NP_001132915.1:p.Glu240Asp
NM_001300786.1:c.688-362G>T	NP_001287715.1:n.688-362G>T
NM_001300787.1:c.720G>T	NP_001287716.1:p.Glu240Asp
NM_004183.3:c.900G>T	NP_004174.1:p.Glu300Asp
XM_005274210.2:c.900G>T	XP_005274267.1:p.Glu300Asp
XM_005274215.2:c.582G>T	XP_005274272.1:p.Glu194Asp
XM_005274216.2:c.923G>T	XP_005274273.1:p.Arg308Met
XM_005274218.3:c.785G>T	XP_005274275.1:p.Arg262Met
XM_005274219.2:c.867+1232G>T	XP_005274276.1:n.867+1232G>T
XM_005274221.2:c.714+2066G>T	XP_005274278.1:n.714+2066G>T
XM_011545229.1:c.900G>T	XP_011543531.1:p.Glu300Asp
XM_011545230.1:c.807G>T	XP_011543532.1:p.Glu269Asp
XM_011545231.1:c.582G>T	XP_011543533.1:p.Glu194Asp
XM_011545232.1:c.1103G>T	XP_011543534.1:p.Arg368Met
XM_011545233.1:c.57G>T	XP_011543535.1:p.Glu19Asp
NM_001363591.1:c.582G>T	NP_001350520.1:p.Glu194Asp
NM_001363592.1:c.1103G>T	NP_001350521.1:p.Arg368Met
NM_001363593.1:c.-73G>T	NP_001350522.1:n.-73G>T
NR_134580.1:n.1683G>T
XM_005274210.4:c.900G>T	XP_005274267.1:p.Glu300Asp
XM_005274215.4:c.582G>T	XP_005274272.1:p.Glu194Asp
XM_005274216.4:c.923G>T	XP_005274273.1:p.Arg308Met
XM_005274219.4:c.867+1232G>T	XP_005274276.1:n.867+1232G>T
XM_005274221.4:c.714+2066G>T	XP_005274278.1:n.714+2066G>T
XM_011545229.3:c.900G>T	XP_011543531.1:p.Glu300Asp
XM_011545230.3:c.807G>T	XP_011543532.1:p.Glu269Asp
XM_011545233.3:c.57G>T	XP_011543535.1:p.Glu19Asp
XM_017018230.2:c.785G>T	XP_016873719.1:p.Arg262Met
XR_001747952.2:n.1601G>T
XR_001747953.2:n.1557+1232G>T
XR_001747954.2:n.1404+2066G>T
XR_001748245.1:n.196+202C>A
XR_002957249.1:n.196+202C>A
NM_004183.4:c.900G>T MANE Select	NP_004174.1:p.Glu300Asp
NM_001139443.2:c.720G>T	NP_001132915.1:p.Glu240Asp
NM_001300786.2:c.688-362G>T	NP_001287715.1:n.688-362G>T
NM_001300787.2:c.720G>T	NP_001287716.1:p.Glu240Asp
NM_001363591.2:c.582G>T	NP_001350520.1:p.Glu194Asp
NM_001363593.2:c.-73G>T	NP_001350522.1:n.-73G>T
NR_134580.2:n.1216G>T