Canonical Allele Identifier: CA1977534266
Gene: BEST1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61959569G= , CM000673.2:g.61959569G= GRCh38
NC_000011.9:g.61727041G= , CM000673.1:g.61727041G= GRCh37
NC_000011.8:g.61483617G= NCBI36
NG_009033.1:g.14686G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378043.9:c.939G= MANE Select ENSP00000367282.4:p.Arg313=
ENST00000378043.8:c.939G= ENSP00000367282.4:p.Arg313=
ENST00000449131.6:c.759G= ENSP00000399709.2:p.Arg253=
ENST00000524877.5:n.2570G=
ENST00000524926.5:c.1142G= ENSP00000432681.1:p.Gly381=
ENST00000526988.1:c.824G= ENSP00000433195.1:p.Gly275=
ENST00000534553.5:c.164-2686G= ENSP00000431189.1:n.164-2686G=
NM_001139443.1:c.759G= NP_001132915.1:p.Arg253=
NM_001300786.1:c.688-323G= NP_001287715.1:n.688-323G=
NM_001300787.1:c.759G= NP_001287716.1:p.Arg253=
NM_004183.3:c.939G= NP_004174.1:p.Arg313=
XM_005274210.2:c.939G= XP_005274267.1:p.Arg313=
XM_005274215.2:c.621G= XP_005274272.1:p.Arg207=
XM_005274216.2:c.962G= XP_005274273.1:p.Gly321=
XM_005274218.3:c.824G= XP_005274275.1:p.Gly275=
XM_005274219.2:c.867+1271G= XP_005274276.1:n.867+1271G=
XM_005274221.2:c.714+2105G= XP_005274278.1:n.714+2105G=
XM_011545229.1:c.939G= XP_011543531.1:p.Arg313=
XM_011545230.1:c.846G= XP_011543532.1:p.Arg282=
XM_011545231.1:c.621G= XP_011543533.1:p.Arg207=
XM_011545232.1:c.1142G= XP_011543534.1:p.Gly381=
XM_011545233.1:c.96G= XP_011543535.1:p.Arg32=
NM_001363591.1:c.621G= NP_001350520.1:p.Arg207=
NM_001363592.1:c.1142G= NP_001350521.1:p.Gly381=
NM_001363593.1:c.-34G= NP_001350522.1:n.-34G=
NR_134580.1:n.1722G=
XM_005274210.4:c.939G= XP_005274267.1:p.Arg313=
XM_005274215.4:c.621G= XP_005274272.1:p.Arg207=
XM_005274216.4:c.962G= XP_005274273.1:p.Gly321=
XM_005274219.4:c.867+1271G= XP_005274276.1:n.867+1271G=
XM_005274221.4:c.714+2105G= XP_005274278.1:n.714+2105G=
XM_011545229.3:c.939G= XP_011543531.1:p.Arg313=
XM_011545230.3:c.846G= XP_011543532.1:p.Arg282=
XM_011545233.3:c.96G= XP_011543535.1:p.Arg32=
XM_017018230.2:c.824G= XP_016873719.1:p.Gly275=
XR_001747952.2:n.1640G=
XR_001747953.2:n.1557+1271G=
XR_001747954.2:n.1404+2105G=
XR_001748245.1:n.196+163C=
XR_002957249.1:n.196+163C=
NM_004183.4:c.939G= MANE Select NP_004174.1:p.Arg313=
NM_001139443.2:c.759G= NP_001132915.1:p.Arg253=
NM_001300786.2:c.688-323G= NP_001287715.1:n.688-323G=
NM_001300787.2:c.759G= NP_001287716.1:p.Arg253=
NM_001363591.2:c.621G= NP_001350520.1:p.Arg207=
NM_001363593.2:c.-34G= NP_001350522.1:n.-34G=
NR_134580.2:n.1255G=