Canonical Allele Identifier: CA227833

Gene: BEST1

Linked Data

• ClinVar Variation Id: 99763
• ClinVar RCV Id: RCV000086181
• dbSNP Id: rs281865254
• MyVariant Identifiers: chr11:g.61726988A>C (hg19) ; chr11:g.61959516A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959516A>C , CM000673.2:g.61959516A>C	GRCh38
NC_000011.9:g.61726988A>C , CM000673.1:g.61726988A>C	GRCh37
NC_000011.8:g.61483564A>C	NCBI36
NG_009033.1:g.14633A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000378043.9:c.886A>C MANE Select	ENSP00000367282.4:p.Asn296His
ENST00000378043.8:c.886A>C	ENSP00000367282.4:p.Asn296His
ENST00000449131.6:c.706A>C	ENSP00000399709.2:p.Asn236His
ENST00000524877.5:n.2517A>C
ENST00000524926.5:c.1089A>C	ENSP00000432681.1:p.Ser363=
ENST00000526988.1:c.771A>C	ENSP00000433195.1:p.Ser257=
ENST00000534553.5:c.164-2739A>C	ENSP00000431189.1:n.164-2739A>C
NM_001139443.1:c.706A>C	NP_001132915.1:p.Asn236His
NM_001300786.1:c.688-376A>C	NP_001287715.1:n.688-376A>C
NM_001300787.1:c.706A>C	NP_001287716.1:p.Asn236His
NM_004183.3:c.886A>C	NP_004174.1:p.Asn296His
XM_005274210.2:c.886A>C	XP_005274267.1:p.Asn296His
XM_005274215.2:c.568A>C	XP_005274272.1:p.Asn190His
XM_005274216.2:c.909A>C	XP_005274273.1:p.Ser303=
XM_005274218.3:c.771A>C	XP_005274275.1:p.Ser257=
XM_005274219.2:c.867+1218A>C	XP_005274276.1:n.867+1218A>C
XM_005274221.2:c.714+2052A>C	XP_005274278.1:n.714+2052A>C
XM_011545229.1:c.886A>C	XP_011543531.1:p.Asn296His
XM_011545230.1:c.793A>C	XP_011543532.1:p.Asn265His
XM_011545231.1:c.568A>C	XP_011543533.1:p.Asn190His
XM_011545232.1:c.1089A>C	XP_011543534.1:p.Ser363=
XM_011545233.1:c.43A>C	XP_011543535.1:p.Asn15His
NM_001363591.1:c.568A>C	NP_001350520.1:p.Asn190His
NM_001363592.1:c.1089A>C	NP_001350521.1:p.Ser363=
NM_001363593.1:c.-87A>C	NP_001350522.1:n.-87A>C
NR_134580.1:n.1669A>C
XM_005274210.4:c.886A>C	XP_005274267.1:p.Asn296His
XM_005274215.4:c.568A>C	XP_005274272.1:p.Asn190His
XM_005274216.4:c.909A>C	XP_005274273.1:p.Ser303=
XM_005274219.4:c.867+1218A>C	XP_005274276.1:n.867+1218A>C
XM_005274221.4:c.714+2052A>C	XP_005274278.1:n.714+2052A>C
XM_011545229.3:c.886A>C	XP_011543531.1:p.Asn296His
XM_011545230.3:c.793A>C	XP_011543532.1:p.Asn265His
XM_011545233.3:c.43A>C	XP_011543535.1:p.Asn15His
XM_017018230.2:c.771A>C	XP_016873719.1:p.Ser257=
XR_001747952.2:n.1587A>C
XR_001747953.2:n.1557+1218A>C
XR_001747954.2:n.1404+2052A>C
XR_001748245.1:n.196+216T>G
XR_002957249.1:n.196+216T>G
NM_004183.4:c.886A>C MANE Select	NP_004174.1:p.Asn296His
NM_001139443.2:c.706A>C	NP_001132915.1:p.Asn236His
NM_001300786.2:c.688-376A>C	NP_001287715.1:n.688-376A>C
NM_001300787.2:c.706A>C	NP_001287716.1:p.Asn236His
NM_001363591.2:c.568A>C	NP_001350520.1:p.Asn190His
NM_001363593.2:c.-87A>C	NP_001350522.1:n.-87A>C
NR_134580.2:n.1202A>C