Canonical Allele Identifier: CA380843935

Gene: BEST1

Linked Data

• MyVariant Identifiers: chr11:g.61727014T>A (hg19) ; chr11:g.61959542T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959542T>A , CM000673.2:g.61959542T>A	GRCh38
NC_000011.9:g.61727014T>A , CM000673.1:g.61727014T>A	GRCh37
NC_000011.8:g.61483590T>A	NCBI36
NG_009033.1:g.14659T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.912T>A MANE Select	ENSP00000367282.4:p.Asp304Glu
ENST00000378043.8:c.912T>A	ENSP00000367282.4:p.Asp304Glu
ENST00000449131.6:c.732T>A	ENSP00000399709.2:p.Asp244Glu
ENST00000524877.5:n.2543T>A
ENST00000524926.5:c.1115T>A	ENSP00000432681.1:p.Ile372Asn
ENST00000526988.1:c.797T>A	ENSP00000433195.1:p.Ile266Asn
ENST00000534553.5:c.164-2713T>A	ENSP00000431189.1:n.164-2713T>A
NM_001139443.1:c.732T>A	NP_001132915.1:p.Asp244Glu
NM_001300786.1:c.688-350T>A	NP_001287715.1:n.688-350T>A
NM_001300787.1:c.732T>A	NP_001287716.1:p.Asp244Glu
NM_004183.3:c.912T>A	NP_004174.1:p.Asp304Glu
XM_005274210.2:c.912T>A	XP_005274267.1:p.Asp304Glu
XM_005274215.2:c.594T>A	XP_005274272.1:p.Asp198Glu
XM_005274216.2:c.935T>A	XP_005274273.1:p.Ile312Asn
XM_005274218.3:c.797T>A	XP_005274275.1:p.Ile266Asn
XM_005274219.2:c.867+1244T>A	XP_005274276.1:n.867+1244T>A
XM_005274221.2:c.714+2078T>A	XP_005274278.1:n.714+2078T>A
XM_011545229.1:c.912T>A	XP_011543531.1:p.Asp304Glu
XM_011545230.1:c.819T>A	XP_011543532.1:p.Asp273Glu
XM_011545231.1:c.594T>A	XP_011543533.1:p.Asp198Glu
XM_011545232.1:c.1115T>A	XP_011543534.1:p.Ile372Asn
XM_011545233.1:c.69T>A	XP_011543535.1:p.Asp23Glu
NM_001363591.1:c.594T>A	NP_001350520.1:p.Asp198Glu
NM_001363592.1:c.1115T>A	NP_001350521.1:p.Ile372Asn
NM_001363593.1:c.-61T>A	NP_001350522.1:n.-61T>A
NR_134580.1:n.1695T>A
XM_005274210.4:c.912T>A	XP_005274267.1:p.Asp304Glu
XM_005274215.4:c.594T>A	XP_005274272.1:p.Asp198Glu
XM_005274216.4:c.935T>A	XP_005274273.1:p.Ile312Asn
XM_005274219.4:c.867+1244T>A	XP_005274276.1:n.867+1244T>A
XM_005274221.4:c.714+2078T>A	XP_005274278.1:n.714+2078T>A
XM_011545229.3:c.912T>A	XP_011543531.1:p.Asp304Glu
XM_011545230.3:c.819T>A	XP_011543532.1:p.Asp273Glu
XM_011545233.3:c.69T>A	XP_011543535.1:p.Asp23Glu
XM_017018230.2:c.797T>A	XP_016873719.1:p.Ile266Asn
XR_001747952.2:n.1613T>A
XR_001747953.2:n.1557+1244T>A
XR_001747954.2:n.1404+2078T>A
XR_001748245.1:n.196+190A>T
XR_002957249.1:n.196+190A>T
NM_004183.4:c.912T>A MANE Select	NP_004174.1:p.Asp304Glu
NM_001139443.2:c.732T>A	NP_001132915.1:p.Asp244Glu
NM_001300786.2:c.688-350T>A	NP_001287715.1:n.688-350T>A
NM_001300787.2:c.732T>A	NP_001287716.1:p.Asp244Glu
NM_001363591.2:c.594T>A	NP_001350520.1:p.Asp198Glu
NM_001363593.2:c.-61T>A	NP_001350522.1:n.-61T>A
NR_134580.2:n.1228T>A