Canonical Allele Identifier: CA474806494
Gene: BEST1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.61725653T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61958181T>A , CM000673.2:g.61958181T>A GRCh38
NC_000011.9:g.61725653T>A , CM000673.1:g.61725653T>A GRCh37
NC_000011.8:g.61482229T>A NCBI36
NG_009033.1:g.13298T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378043.9:c.750T>A MANE Select ENSP00000367282.4:p.Thr250=
ENST00000378043.8:c.750T>A ENSP00000367282.4:p.Thr250=
ENST00000449131.6:c.570T>A ENSP00000399709.2:p.Thr190=
ENST00000524877.5:n.1182T>A
ENST00000524926.5:c.750T>A ENSP00000432681.1:p.Thr250=
ENST00000526988.1:c.432T>A ENSP00000433195.1:p.Thr144=
ENST00000529265.5:n.673T>A
ENST00000534553.5:c.163+2230T>A ENSP00000431189.1:n.163+2230T>A
NM_001139443.1:c.570T>A NP_001132915.1:p.Thr190=
NM_001300786.1:c.570T>A NP_001287715.1:p.Thr190=
NM_001300787.1:c.570T>A NP_001287716.1:p.Thr190=
NM_004183.3:c.750T>A NP_004174.1:p.Thr250=
XM_005274210.2:c.750T>A XP_005274267.1:p.Thr250=
XM_005274215.2:c.432T>A XP_005274272.1:p.Thr144=
XM_005274216.2:c.570T>A XP_005274273.1:p.Thr190=
XM_005274218.3:c.432T>A XP_005274275.1:p.Thr144=
XM_005274219.2:c.750T>A XP_005274276.1:p.Thr250=
XM_005274221.2:c.714+717T>A XP_005274278.1:n.714+717T>A
XM_011545229.1:c.750T>A XP_011543531.1:p.Thr250=
XM_011545230.1:c.657T>A XP_011543532.1:p.Thr219=
XM_011545231.1:c.432T>A XP_011543533.1:p.Thr144=
XM_011545232.1:c.750T>A XP_011543534.1:p.Thr250=
NM_001363591.1:c.432T>A NP_001350520.1:p.Thr144=
NM_001363592.1:c.750T>A NP_001350521.1:p.Thr250=
NM_001363593.1:c.-426T>A NP_001350522.1:n.-426T>A
NR_134580.1:n.1330T>A
XM_005274210.4:c.750T>A XP_005274267.1:p.Thr250=
XM_005274215.4:c.432T>A XP_005274272.1:p.Thr144=
XM_005274216.4:c.570T>A XP_005274273.1:p.Thr190=
XM_005274219.4:c.750T>A XP_005274276.1:p.Thr250=
XM_005274221.4:c.714+717T>A XP_005274278.1:n.714+717T>A
XM_011545229.3:c.750T>A XP_011543531.1:p.Thr250=
XM_011545230.3:c.657T>A XP_011543532.1:p.Thr219=
XM_017018230.2:c.432T>A XP_016873719.1:p.Thr144=
XR_001747952.2:n.1248T>A
XR_001747953.2:n.1440T>A
XR_001747954.2:n.1404+717T>A
XR_001748245.1:n.548A>T
XR_002957249.1:n.505+43A>T
NM_004183.4:c.750T>A MANE Select NP_004174.1:p.Thr250=
NM_001139443.2:c.570T>A NP_001132915.1:p.Thr190=
NM_001300786.2:c.570T>A NP_001287715.1:p.Thr190=
NM_001300787.2:c.570T>A NP_001287716.1:p.Thr190=
NM_001363591.2:c.432T>A NP_001350520.1:p.Thr144=
NM_001363593.2:c.-426T>A NP_001350522.1:n.-426T>A
NR_134580.2:n.863T>A