Canonical Allele Identifier: CA2843389179

Gene: BEST1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61957430dup , CM000673.2:g.61957430dup	GRCh38
NC_000011.9:g.61724902dup , CM000673.1:g.61724902dup	GRCh37
NC_000011.8:g.61481478dup	NCBI36
NG_009033.1:g.12547dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.680dup MANE Select	ENSP00000367282.4:p.Tyr227Ter
ENST00000378043.8:c.680dup	ENSP00000367282.4:p.Tyr227Ter
ENST00000449131.6:c.500dup	ENSP00000399709.2:p.Tyr167Ter
ENST00000524877.5:n.1112dup
ENST00000524926.5:c.680dup	ENSP00000432681.1:p.Tyr227Ter
ENST00000526988.1:c.362dup	ENSP00000433195.1:p.Tyr121Ter
ENST00000529265.5:n.603dup
ENST00000534553.5:c.163+1479dup	ENSP00000431189.1:n.163+1479dup
NM_001139443.1:c.500dup	NP_001132915.1:p.Tyr167Ter
NM_001300786.1:c.500dup	NP_001287715.1:p.Tyr167Ter
NM_001300787.1:c.500dup	NP_001287716.1:p.Tyr167Ter
NM_004183.3:c.680dup	NP_004174.1:p.Tyr227Ter
XM_005274210.2:c.680dup	XP_005274267.1:p.Tyr227Ter
XM_005274215.2:c.362dup	XP_005274272.1:p.Tyr121Ter
XM_005274216.2:c.500dup	XP_005274273.1:p.Tyr167Ter
XM_005274218.3:c.362dup	XP_005274275.1:p.Tyr121Ter
XM_005274219.2:c.680dup	XP_005274276.1:p.Tyr227Ter
XM_005274221.2:c.680dup	XP_005274278.1:p.Tyr227Ter
XM_011545229.1:c.680dup	XP_011543531.1:p.Tyr227Ter
XM_011545230.1:c.587dup	XP_011543532.1:p.Tyr196Ter
XM_011545231.1:c.362dup	XP_011543533.1:p.Tyr121Ter
XM_011545232.1:c.680dup	XP_011543534.1:p.Tyr227Ter
NM_001363591.1:c.362dup	NP_001350520.1:p.Tyr121Ter
NM_001363592.1:c.680dup	NP_001350521.1:p.Tyr227Ter
NM_001363593.1:c.-496dup	NP_001350522.1:n.-496dup
NR_134580.1:n.1260dup
XM_005274210.4:c.680dup	XP_005274267.1:p.Tyr227Ter
XM_005274215.4:c.362dup	XP_005274272.1:p.Tyr121Ter
XM_005274216.4:c.500dup	XP_005274273.1:p.Tyr167Ter
XM_005274219.4:c.680dup	XP_005274276.1:p.Tyr227Ter
XM_005274221.4:c.680dup	XP_005274278.1:p.Tyr227Ter
XM_011545229.3:c.680dup	XP_011543531.1:p.Tyr227Ter
XM_011545230.3:c.587dup	XP_011543532.1:p.Tyr196Ter
XM_017018230.2:c.362dup	XP_016873719.1:p.Tyr121Ter
XR_001747952.2:n.1178dup
XR_001747953.2:n.1370dup
XR_001747954.2:n.1370dup
XR_001748245.1:n.1299dup
XR_002957249.1:n.506-198dup
NM_004183.4:c.680dup MANE Select	NP_004174.1:p.Tyr227Ter
NM_001139443.2:c.500dup	NP_001132915.1:p.Tyr167Ter
NM_001300786.2:c.500dup	NP_001287715.1:p.Tyr167Ter
NM_001300787.2:c.500dup	NP_001287716.1:p.Tyr167Ter
NM_001363591.2:c.362dup	NP_001350520.1:p.Tyr121Ter
NM_001363593.2:c.-496dup	NP_001350522.1:n.-496dup
NR_134580.2:n.793dup