Canonical Allele Identifier: CA380844106

Gene: BEST1

Linked Data

• MyVariant Identifiers: chr11:g.61727036G>T (hg19) ; chr11:g.61959564G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959564G>T , CM000673.2:g.61959564G>T	GRCh38
NC_000011.9:g.61727036G>T , CM000673.1:g.61727036G>T	GRCh37
NC_000011.8:g.61483612G>T	NCBI36
NG_009033.1:g.14681G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.934G>T MANE Select	ENSP00000367282.4:p.Asp312Tyr
ENST00000378043.8:c.934G>T	ENSP00000367282.4:p.Asp312Tyr
ENST00000449131.6:c.754G>T	ENSP00000399709.2:p.Asp252Tyr
ENST00000524877.5:n.2565G>T
ENST00000524926.5:c.1137G>T	ENSP00000432681.1:p.Ser379=
ENST00000526988.1:c.819G>T	ENSP00000433195.1:p.Ser273=
ENST00000534553.5:c.164-2691G>T	ENSP00000431189.1:n.164-2691G>T
NM_001139443.1:c.754G>T	NP_001132915.1:p.Asp252Tyr
NM_001300786.1:c.688-328G>T	NP_001287715.1:n.688-328G>T
NM_001300787.1:c.754G>T	NP_001287716.1:p.Asp252Tyr
NM_004183.3:c.934G>T	NP_004174.1:p.Asp312Tyr
XM_005274210.2:c.934G>T	XP_005274267.1:p.Asp312Tyr
XM_005274215.2:c.616G>T	XP_005274272.1:p.Asp206Tyr
XM_005274216.2:c.957G>T	XP_005274273.1:p.Ser319=
XM_005274218.3:c.819G>T	XP_005274275.1:p.Ser273=
XM_005274219.2:c.867+1266G>T	XP_005274276.1:n.867+1266G>T
XM_005274221.2:c.714+2100G>T	XP_005274278.1:n.714+2100G>T
XM_011545229.1:c.934G>T	XP_011543531.1:p.Asp312Tyr
XM_011545230.1:c.841G>T	XP_011543532.1:p.Asp281Tyr
XM_011545231.1:c.616G>T	XP_011543533.1:p.Asp206Tyr
XM_011545232.1:c.1137G>T	XP_011543534.1:p.Ser379=
XM_011545233.1:c.91G>T	XP_011543535.1:p.Asp31Tyr
NM_001363591.1:c.616G>T	NP_001350520.1:p.Asp206Tyr
NM_001363592.1:c.1137G>T	NP_001350521.1:p.Ser379=
NM_001363593.1:c.-39G>T	NP_001350522.1:n.-39G>T
NR_134580.1:n.1717G>T
XM_005274210.4:c.934G>T	XP_005274267.1:p.Asp312Tyr
XM_005274215.4:c.616G>T	XP_005274272.1:p.Asp206Tyr
XM_005274216.4:c.957G>T	XP_005274273.1:p.Ser319=
XM_005274219.4:c.867+1266G>T	XP_005274276.1:n.867+1266G>T
XM_005274221.4:c.714+2100G>T	XP_005274278.1:n.714+2100G>T
XM_011545229.3:c.934G>T	XP_011543531.1:p.Asp312Tyr
XM_011545230.3:c.841G>T	XP_011543532.1:p.Asp281Tyr
XM_011545233.3:c.91G>T	XP_011543535.1:p.Asp31Tyr
XM_017018230.2:c.819G>T	XP_016873719.1:p.Ser273=
XR_001747952.2:n.1635G>T
XR_001747953.2:n.1557+1266G>T
XR_001747954.2:n.1404+2100G>T
XR_001748245.1:n.196+168C>A
XR_002957249.1:n.196+168C>A
NM_004183.4:c.934G>T MANE Select	NP_004174.1:p.Asp312Tyr
NM_001139443.2:c.754G>T	NP_001132915.1:p.Asp252Tyr
NM_001300786.2:c.688-328G>T	NP_001287715.1:n.688-328G>T
NM_001300787.2:c.754G>T	NP_001287716.1:p.Asp252Tyr
NM_001363591.2:c.616G>T	NP_001350520.1:p.Asp206Tyr
NM_001363593.2:c.-39G>T	NP_001350522.1:n.-39G>T
NR_134580.2:n.1250G>T