Canonical Allele Identifier: CA1977531743
Community Standard Title: NM_004183.4(BEST1):c.763C= (p.Arg255=)
Gene: BEST1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61958194C= , CM000673.2:g.61958194C= GRCh38
NC_000011.9:g.61725666C= , CM000673.1:g.61725666C= GRCh37
NC_000011.8:g.61482242C= NCBI36
NG_009033.1:g.13311C=

Transcript Alleles

HGVS Amino-acid Change
NM_004183.4:c.763C= MANE Select NP_004174.1:p.Arg255=
ENST00000378043.9:c.763C= MANE Select ENSP00000367282.4:p.Arg255=
NM_001139443.1:c.583C= NP_001132915.1:p.Arg195=
NM_001139443.2:c.583C= NP_001132915.1:p.Arg195=
NM_001300786.1:c.583C= NP_001287715.1:p.Arg195=
NM_001300786.2:c.583C= NP_001287715.1:p.Arg195=
NM_001300787.1:c.583C= NP_001287716.1:p.Arg195=
NM_001300787.2:c.583C= NP_001287716.1:p.Arg195=
NM_001363591.1:c.445C= NP_001350520.1:p.Arg149=
NM_001363591.2:c.445C= NP_001350520.1:p.Arg149=
NM_001363592.1:c.763C= NP_001350521.1:p.Arg255=
NM_001363593.1:c.-413C= NP_001350522.1:n.-413C=
NM_001363593.2:c.-413C= NP_001350522.1:n.-413C=
NM_004183.3:c.763C= NP_004174.1:p.Arg255=
NR_134580.1:n.1343C=
NR_134580.2:n.876C=
ENST00000378043.8:c.763C= ENSP00000367282.4:p.Arg255=
ENST00000449131.6:c.583C= ENSP00000399709.2:p.Arg195=
ENST00000524877.5:n.1195C=
ENST00000524926.5:c.763C= ENSP00000432681.1:p.Arg255=
ENST00000526988.1:c.445C= ENSP00000433195.1:p.Arg149=
ENST00000529265.5:n.686C=
ENST00000534553.5:c.163+2243C= ENSP00000431189.1:n.163+2243C=
XM_005274210.2:c.763C= XP_005274267.1:p.Arg255=
XM_005274210.4:c.763C= XP_005274267.1:p.Arg255=
XM_005274215.2:c.445C= XP_005274272.1:p.Arg149=
XM_005274215.4:c.445C= XP_005274272.1:p.Arg149=
XM_005274216.2:c.583C= XP_005274273.1:p.Arg195=
XM_005274216.4:c.583C= XP_005274273.1:p.Arg195=
XM_005274218.3:c.445C= XP_005274275.1:p.Arg149=
XM_005274219.2:c.763C= XP_005274276.1:p.Arg255=
XM_005274219.4:c.763C= XP_005274276.1:p.Arg255=
XM_005274221.2:c.714+730C= XP_005274278.1:n.714+730C=
XM_005274221.4:c.714+730C= XP_005274278.1:n.714+730C=
XM_011545229.1:c.763C= XP_011543531.1:p.Arg255=
XM_011545229.3:c.763C= XP_011543531.1:p.Arg255=
XM_011545230.1:c.670C= XP_011543532.1:p.Arg224=
XM_011545230.3:c.670C= XP_011543532.1:p.Arg224=
XM_011545231.1:c.445C= XP_011543533.1:p.Arg149=
XM_011545232.1:c.763C= XP_011543534.1:p.Arg255=
XM_017018230.2:c.445C= XP_016873719.1:p.Arg149=
XR_001747952.2:n.1261C=
XR_001747953.2:n.1453C=
XR_001747954.2:n.1404+730C=
XR_001748245.1:n.535G=
XR_002957249.1:n.505+30G=