Canonical Allele Identifier: CA380843682

Gene: BEST1

Linked Data

• MyVariant Identifiers: chr11:g.61726982C>T (hg19) ; chr11:g.61959510C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959510C>T , CM000673.2:g.61959510C>T	GRCh38
NC_000011.9:g.61726982C>T , CM000673.1:g.61726982C>T	GRCh37
NC_000011.8:g.61483558C>T	NCBI36
NG_009033.1:g.14627C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.880C>T MANE Select	ENSP00000367282.4:p.Leu294Phe
ENST00000378043.8:c.880C>T	ENSP00000367282.4:p.Leu294Phe
ENST00000449131.6:c.700C>T	ENSP00000399709.2:p.Leu234Phe
ENST00000524877.5:n.2511C>T
ENST00000524926.5:c.1083C>T	ENSP00000432681.1:p.Ser361=
ENST00000526988.1:c.765C>T	ENSP00000433195.1:p.Ser255=
ENST00000534553.5:c.164-2745C>T	ENSP00000431189.1:n.164-2745C>T
NM_001139443.1:c.700C>T	NP_001132915.1:p.Leu234Phe
NM_001300786.1:c.688-382C>T	NP_001287715.1:n.688-382C>T
NM_001300787.1:c.700C>T	NP_001287716.1:p.Leu234Phe
NM_004183.3:c.880C>T	NP_004174.1:p.Leu294Phe
XM_005274210.2:c.880C>T	XP_005274267.1:p.Leu294Phe
XM_005274215.2:c.562C>T	XP_005274272.1:p.Leu188Phe
XM_005274216.2:c.903C>T	XP_005274273.1:p.Ser301=
XM_005274218.3:c.765C>T	XP_005274275.1:p.Ser255=
XM_005274219.2:c.867+1212C>T	XP_005274276.1:n.867+1212C>T
XM_005274221.2:c.714+2046C>T	XP_005274278.1:n.714+2046C>T
XM_011545229.1:c.880C>T	XP_011543531.1:p.Leu294Phe
XM_011545230.1:c.787C>T	XP_011543532.1:p.Leu263Phe
XM_011545231.1:c.562C>T	XP_011543533.1:p.Leu188Phe
XM_011545232.1:c.1083C>T	XP_011543534.1:p.Ser361=
XM_011545233.1:c.37C>T	XP_011543535.1:p.Leu13Phe
NM_001363591.1:c.562C>T	NP_001350520.1:p.Leu188Phe
NM_001363592.1:c.1083C>T	NP_001350521.1:p.Ser361=
NM_001363593.1:c.-93C>T	NP_001350522.1:n.-93C>T
NR_134580.1:n.1663C>T
XM_005274210.4:c.880C>T	XP_005274267.1:p.Leu294Phe
XM_005274215.4:c.562C>T	XP_005274272.1:p.Leu188Phe
XM_005274216.4:c.903C>T	XP_005274273.1:p.Ser301=
XM_005274219.4:c.867+1212C>T	XP_005274276.1:n.867+1212C>T
XM_005274221.4:c.714+2046C>T	XP_005274278.1:n.714+2046C>T
XM_011545229.3:c.880C>T	XP_011543531.1:p.Leu294Phe
XM_011545230.3:c.787C>T	XP_011543532.1:p.Leu263Phe
XM_011545233.3:c.37C>T	XP_011543535.1:p.Leu13Phe
XM_017018230.2:c.765C>T	XP_016873719.1:p.Ser255=
XR_001747952.2:n.1581C>T
XR_001747953.2:n.1557+1212C>T
XR_001747954.2:n.1404+2046C>T
XR_001748245.1:n.196+222G>A
XR_002957249.1:n.196+222G>A
NM_004183.4:c.880C>T MANE Select	NP_004174.1:p.Leu294Phe
NM_001139443.2:c.700C>T	NP_001132915.1:p.Leu234Phe
NM_001300786.2:c.688-382C>T	NP_001287715.1:n.688-382C>T
NM_001300787.2:c.700C>T	NP_001287716.1:p.Leu234Phe
NM_001363591.2:c.562C>T	NP_001350520.1:p.Leu188Phe
NM_001363593.2:c.-93C>T	NP_001350522.1:n.-93C>T
NR_134580.2:n.1196C>T