Canonical Allele Identifier: CA227826

Gene: BEST1

Linked Data

• ClinVar Variation Id: 99758
• ClinVar RCV Id: RCV000086176
• dbSNP Id: rs281865250
• MyVariant Identifiers: chr11:g.61726979C>A (hg19) ; chr11:g.61959507C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959507C>A , CM000673.2:g.61959507C>A	GRCh38
NC_000011.9:g.61726979C>A , CM000673.1:g.61726979C>A	GRCh37
NC_000011.8:g.61483555C>A	NCBI36
NG_009033.1:g.14624C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000378043.9:c.877C>A MANE Select	ENSP00000367282.4:p.Gln293Lys
ENST00000378043.8:c.877C>A	ENSP00000367282.4:p.Gln293Lys
ENST00000449131.6:c.697C>A	ENSP00000399709.2:p.Gln233Lys
ENST00000524877.5:n.2508C>A
ENST00000524926.5:c.1080C>A	ENSP00000432681.1:p.Ser360Arg
ENST00000526988.1:c.762C>A	ENSP00000433195.1:p.Ser254Arg
ENST00000534553.5:c.164-2748C>A	ENSP00000431189.1:n.164-2748C>A
NM_001139443.1:c.697C>A	NP_001132915.1:p.Gln233Lys
NM_001300786.1:c.688-385C>A	NP_001287715.1:n.688-385C>A
NM_001300787.1:c.697C>A	NP_001287716.1:p.Gln233Lys
NM_004183.3:c.877C>A	NP_004174.1:p.Gln293Lys
XM_005274210.2:c.877C>A	XP_005274267.1:p.Gln293Lys
XM_005274215.2:c.559C>A	XP_005274272.1:p.Gln187Lys
XM_005274216.2:c.900C>A	XP_005274273.1:p.Ser300Arg
XM_005274218.3:c.762C>A	XP_005274275.1:p.Ser254Arg
XM_005274219.2:c.867+1209C>A	XP_005274276.1:n.867+1209C>A
XM_005274221.2:c.714+2043C>A	XP_005274278.1:n.714+2043C>A
XM_011545229.1:c.877C>A	XP_011543531.1:p.Gln293Lys
XM_011545230.1:c.784C>A	XP_011543532.1:p.Gln262Lys
XM_011545231.1:c.559C>A	XP_011543533.1:p.Gln187Lys
XM_011545232.1:c.1080C>A	XP_011543534.1:p.Ser360Arg
XM_011545233.1:c.34C>A	XP_011543535.1:p.Gln12Lys
NM_001363591.1:c.559C>A	NP_001350520.1:p.Gln187Lys
NM_001363592.1:c.1080C>A	NP_001350521.1:p.Ser360Arg
NM_001363593.1:c.-96C>A	NP_001350522.1:n.-96C>A
NR_134580.1:n.1660C>A
XM_005274210.4:c.877C>A	XP_005274267.1:p.Gln293Lys
XM_005274215.4:c.559C>A	XP_005274272.1:p.Gln187Lys
XM_005274216.4:c.900C>A	XP_005274273.1:p.Ser300Arg
XM_005274219.4:c.867+1209C>A	XP_005274276.1:n.867+1209C>A
XM_005274221.4:c.714+2043C>A	XP_005274278.1:n.714+2043C>A
XM_011545229.3:c.877C>A	XP_011543531.1:p.Gln293Lys
XM_011545230.3:c.784C>A	XP_011543532.1:p.Gln262Lys
XM_011545233.3:c.34C>A	XP_011543535.1:p.Gln12Lys
XM_017018230.2:c.762C>A	XP_016873719.1:p.Ser254Arg
XR_001747952.2:n.1578C>A
XR_001747953.2:n.1557+1209C>A
XR_001747954.2:n.1404+2043C>A
XR_001748245.1:n.196+225G>T
XR_002957249.1:n.196+225G>T
NM_004183.4:c.877C>A MANE Select	NP_004174.1:p.Gln293Lys
NM_001139443.2:c.697C>A	NP_001132915.1:p.Gln233Lys
NM_001300786.2:c.688-385C>A	NP_001287715.1:n.688-385C>A
NM_001300787.2:c.697C>A	NP_001287716.1:p.Gln233Lys
NM_001363591.2:c.559C>A	NP_001350520.1:p.Gln187Lys
NM_001363593.2:c.-96C>A	NP_001350522.1:n.-96C>A
NR_134580.2:n.1193C>A