Canonical Allele Identifier: CA227834

Gene: BEST1

Linked Data

• ClinVar Variation Id: 99764
• ClinVar RCV Id: RCV000086182 ; RCV000787546 ; RCV001002895
• dbSNP Id: rs281865255
• MyVariant Identifiers: chr11:g.61726989A>G (hg19) ; chr11:g.61959517A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959517A>G , CM000673.2:g.61959517A>G	GRCh38
NC_000011.9:g.61726989A>G , CM000673.1:g.61726989A>G	GRCh37
NC_000011.8:g.61483565A>G	NCBI36
NG_009033.1:g.14634A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.887A>G MANE Select	ENSP00000367282.4:p.Asn296Ser
ENST00000378043.8:c.887A>G	ENSP00000367282.4:p.Asn296Ser
ENST00000449131.6:c.707A>G	ENSP00000399709.2:p.Asn236Ser
ENST00000524877.5:n.2518A>G
ENST00000524926.5:c.1090A>G	ENSP00000432681.1:p.Thr364Ala
ENST00000526988.1:c.772A>G	ENSP00000433195.1:p.Thr258Ala
ENST00000534553.5:c.164-2738A>G	ENSP00000431189.1:n.164-2738A>G
NM_001139443.1:c.707A>G	NP_001132915.1:p.Asn236Ser
NM_001300786.1:c.688-375A>G	NP_001287715.1:n.688-375A>G
NM_001300787.1:c.707A>G	NP_001287716.1:p.Asn236Ser
NM_004183.3:c.887A>G	NP_004174.1:p.Asn296Ser
XM_005274210.2:c.887A>G	XP_005274267.1:p.Asn296Ser
XM_005274215.2:c.569A>G	XP_005274272.1:p.Asn190Ser
XM_005274216.2:c.910A>G	XP_005274273.1:p.Thr304Ala
XM_005274218.3:c.772A>G	XP_005274275.1:p.Thr258Ala
XM_005274219.2:c.867+1219A>G	XP_005274276.1:n.867+1219A>G
XM_005274221.2:c.714+2053A>G	XP_005274278.1:n.714+2053A>G
XM_011545229.1:c.887A>G	XP_011543531.1:p.Asn296Ser
XM_011545230.1:c.794A>G	XP_011543532.1:p.Asn265Ser
XM_011545231.1:c.569A>G	XP_011543533.1:p.Asn190Ser
XM_011545232.1:c.1090A>G	XP_011543534.1:p.Thr364Ala
XM_011545233.1:c.44A>G	XP_011543535.1:p.Asn15Ser
NM_001363591.1:c.569A>G	NP_001350520.1:p.Asn190Ser
NM_001363592.1:c.1090A>G	NP_001350521.1:p.Thr364Ala
NM_001363593.1:c.-86A>G	NP_001350522.1:n.-86A>G
NR_134580.1:n.1670A>G
XM_005274210.4:c.887A>G	XP_005274267.1:p.Asn296Ser
XM_005274215.4:c.569A>G	XP_005274272.1:p.Asn190Ser
XM_005274216.4:c.910A>G	XP_005274273.1:p.Thr304Ala
XM_005274219.4:c.867+1219A>G	XP_005274276.1:n.867+1219A>G
XM_005274221.4:c.714+2053A>G	XP_005274278.1:n.714+2053A>G
XM_011545229.3:c.887A>G	XP_011543531.1:p.Asn296Ser
XM_011545230.3:c.794A>G	XP_011543532.1:p.Asn265Ser
XM_011545233.3:c.44A>G	XP_011543535.1:p.Asn15Ser
XM_017018230.2:c.772A>G	XP_016873719.1:p.Thr258Ala
XR_001747952.2:n.1588A>G
XR_001747953.2:n.1557+1219A>G
XR_001747954.2:n.1404+2053A>G
XR_001748245.1:n.196+215T>C
XR_002957249.1:n.196+215T>C
NM_004183.4:c.887A>G MANE Select	NP_004174.1:p.Asn296Ser
NM_001139443.2:c.707A>G	NP_001132915.1:p.Asn236Ser
NM_001300786.2:c.688-375A>G	NP_001287715.1:n.688-375A>G
NM_001300787.2:c.707A>G	NP_001287716.1:p.Asn236Ser
NM_001363591.2:c.569A>G	NP_001350520.1:p.Asn190Ser
NM_001363593.2:c.-86A>G	NP_001350522.1:n.-86A>G
NR_134580.2:n.1203A>G