Canonical Allele Identifier: CA1977534071
Gene: BEST1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61959533T= , CM000673.2:g.61959533T= GRCh38
NC_000011.9:g.61727005T= , CM000673.1:g.61727005T= GRCh37
NC_000011.8:g.61483581T= NCBI36
NG_009033.1:g.14650T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378043.9:c.903T= MANE Select ENSP00000367282.4:p.Asp301=
ENST00000378043.8:c.903T= ENSP00000367282.4:p.Asp301=
ENST00000449131.6:c.723T= ENSP00000399709.2:p.Asp241=
ENST00000524877.5:n.2534T=
ENST00000524926.5:c.1106T= ENSP00000432681.1:p.Met369=
ENST00000526988.1:c.788T= ENSP00000433195.1:p.Met263=
ENST00000534553.5:c.164-2722T= ENSP00000431189.1:n.164-2722T=
NM_001139443.1:c.723T= NP_001132915.1:p.Asp241=
NM_001300786.1:c.688-359T= NP_001287715.1:n.688-359T=
NM_001300787.1:c.723T= NP_001287716.1:p.Asp241=
NM_004183.3:c.903T= NP_004174.1:p.Asp301=
XM_005274210.2:c.903T= XP_005274267.1:p.Asp301=
XM_005274215.2:c.585T= XP_005274272.1:p.Asp195=
XM_005274216.2:c.926T= XP_005274273.1:p.Met309=
XM_005274218.3:c.788T= XP_005274275.1:p.Met263=
XM_005274219.2:c.867+1235T= XP_005274276.1:n.867+1235T=
XM_005274221.2:c.714+2069T= XP_005274278.1:n.714+2069T=
XM_011545229.1:c.903T= XP_011543531.1:p.Asp301=
XM_011545230.1:c.810T= XP_011543532.1:p.Asp270=
XM_011545231.1:c.585T= XP_011543533.1:p.Asp195=
XM_011545232.1:c.1106T= XP_011543534.1:p.Met369=
XM_011545233.1:c.60T= XP_011543535.1:p.Asp20=
NM_001363591.1:c.585T= NP_001350520.1:p.Asp195=
NM_001363592.1:c.1106T= NP_001350521.1:p.Met369=
NM_001363593.1:c.-70T= NP_001350522.1:n.-70T=
NR_134580.1:n.1686T=
XM_005274210.4:c.903T= XP_005274267.1:p.Asp301=
XM_005274215.4:c.585T= XP_005274272.1:p.Asp195=
XM_005274216.4:c.926T= XP_005274273.1:p.Met309=
XM_005274219.4:c.867+1235T= XP_005274276.1:n.867+1235T=
XM_005274221.4:c.714+2069T= XP_005274278.1:n.714+2069T=
XM_011545229.3:c.903T= XP_011543531.1:p.Asp301=
XM_011545230.3:c.810T= XP_011543532.1:p.Asp270=
XM_011545233.3:c.60T= XP_011543535.1:p.Asp20=
XM_017018230.2:c.788T= XP_016873719.1:p.Met263=
XR_001747952.2:n.1604T=
XR_001747953.2:n.1557+1235T=
XR_001747954.2:n.1404+2069T=
XR_001748245.1:n.196+199A=
XR_002957249.1:n.196+199A=
NM_004183.4:c.903T= MANE Select NP_004174.1:p.Asp301=
NM_001139443.2:c.723T= NP_001132915.1:p.Asp241=
NM_001300786.2:c.688-359T= NP_001287715.1:n.688-359T=
NM_001300787.2:c.723T= NP_001287716.1:p.Asp241=
NM_001363591.2:c.585T= NP_001350520.1:p.Asp195=
NM_001363593.2:c.-70T= NP_001350522.1:n.-70T=
NR_134580.2:n.1219T=