Canonical Allele Identifier: CA380844095
Gene: BEST1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61959563C>A , CM000673.2:g.61959563C>A GRCh38
NC_000011.9:g.61727035C>A , CM000673.1:g.61727035C>A GRCh37
NC_000011.8:g.61483611C>A NCBI36
NG_009033.1:g.14680C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378043.9:c.933C>A MANE Select ENSP00000367282.4:p.Val311=
ENST00000378043.8:c.933C>A ENSP00000367282.4:p.Val311=
ENST00000449131.6:c.753C>A ENSP00000399709.2:p.Val251=
ENST00000524877.5:n.2564C>A
ENST00000524926.5:c.1136C>A ENSP00000432681.1:p.Ser379Ter
ENST00000526988.1:c.818C>A ENSP00000433195.1:p.Ser273Ter
ENST00000534553.5:c.164-2692C>A ENSP00000431189.1:n.164-2692C>A
NM_001139443.1:c.753C>A NP_001132915.1:p.Val251=
NM_001300786.1:c.688-329C>A NP_001287715.1:n.688-329C>A
NM_001300787.1:c.753C>A NP_001287716.1:p.Val251=
NM_004183.3:c.933C>A NP_004174.1:p.Val311=
XM_005274210.2:c.933C>A XP_005274267.1:p.Val311=
XM_005274215.2:c.615C>A XP_005274272.1:p.Val205=
XM_005274216.2:c.956C>A XP_005274273.1:p.Ser319Ter
XM_005274218.3:c.818C>A XP_005274275.1:p.Ser273Ter
XM_005274219.2:c.867+1265C>A XP_005274276.1:n.867+1265C>A
XM_005274221.2:c.714+2099C>A XP_005274278.1:n.714+2099C>A
XM_011545229.1:c.933C>A XP_011543531.1:p.Val311=
XM_011545230.1:c.840C>A XP_011543532.1:p.Val280=
XM_011545231.1:c.615C>A XP_011543533.1:p.Val205=
XM_011545232.1:c.1136C>A XP_011543534.1:p.Ser379Ter
XM_011545233.1:c.90C>A XP_011543535.1:p.Val30=
NM_001363591.1:c.615C>A NP_001350520.1:p.Val205=
NM_001363592.1:c.1136C>A NP_001350521.1:p.Ser379Ter
NM_001363593.1:c.-40C>A NP_001350522.1:n.-40C>A
NR_134580.1:n.1716C>A
XM_005274210.4:c.933C>A XP_005274267.1:p.Val311=
XM_005274215.4:c.615C>A XP_005274272.1:p.Val205=
XM_005274216.4:c.956C>A XP_005274273.1:p.Ser319Ter
XM_005274219.4:c.867+1265C>A XP_005274276.1:n.867+1265C>A
XM_005274221.4:c.714+2099C>A XP_005274278.1:n.714+2099C>A
XM_011545229.3:c.933C>A XP_011543531.1:p.Val311=
XM_011545230.3:c.840C>A XP_011543532.1:p.Val280=
XM_011545233.3:c.90C>A XP_011543535.1:p.Val30=
XM_017018230.2:c.818C>A XP_016873719.1:p.Ser273Ter
XR_001747952.2:n.1634C>A
XR_001747953.2:n.1557+1265C>A
XR_001747954.2:n.1404+2099C>A
XR_001748245.1:n.196+169G>T
XR_002957249.1:n.196+169G>T
NM_004183.4:c.933C>A MANE Select NP_004174.1:p.Val311=
NM_001139443.2:c.753C>A NP_001132915.1:p.Val251=
NM_001300786.2:c.688-329C>A NP_001287715.1:n.688-329C>A
NM_001300787.2:c.753C>A NP_001287716.1:p.Val251=
NM_001363591.2:c.615C>A NP_001350520.1:p.Val205=
NM_001363593.2:c.-40C>A NP_001350522.1:n.-40C>A
NR_134580.2:n.1249C>A