Canonical Allele Identifier: CA1977528237
Gene: BEST1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61955832G= , CM000673.2:g.61955832G= GRCh38
NC_000011.9:g.61723304G= , CM000673.1:g.61723304G= GRCh37
NC_000011.8:g.61479880G= NCBI36
NG_009033.1:g.10949G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378043.9:c.362G= MANE Select ENSP00000367282.4:p.Gly121=
ENST00000378043.8:c.362G= ENSP00000367282.4:p.Gly121=
ENST00000449131.6:c.182G= ENSP00000399709.2:p.Gly61=
ENST00000524877.5:n.794G=
ENST00000524926.5:c.362G= ENSP00000432681.1:p.Gly121=
ENST00000526988.1:c.44G= ENSP00000433195.1:p.Gly15=
ENST00000529265.5:n.285G=
ENST00000533521.5:n.986G=
ENST00000534553.5:c.44G= ENSP00000431189.1:p.Gly15=
NM_001139443.1:c.182G= NP_001132915.1:p.Gly61=
NM_001300786.1:c.182G= NP_001287715.1:p.Gly61=
NM_001300787.1:c.182G= NP_001287716.1:p.Gly61=
NM_004183.3:c.362G= NP_004174.1:p.Gly121=
XM_005274210.2:c.362G= XP_005274267.1:p.Gly121=
XM_005274215.2:c.44G= XP_005274272.1:p.Gly15=
XM_005274216.2:c.182G= XP_005274273.1:p.Gly61=
XM_005274218.3:c.44G= XP_005274275.1:p.Gly15=
XM_005274219.2:c.362G= XP_005274276.1:p.Gly121=
XM_005274221.2:c.362G= XP_005274278.1:p.Gly121=
XM_011545229.1:c.362G= XP_011543531.1:p.Gly121=
XM_011545230.1:c.269G= XP_011543532.1:p.Gly90=
XM_011545231.1:c.44G= XP_011543533.1:p.Gly15=
XM_011545232.1:c.362G= XP_011543534.1:p.Gly121=
NM_001363591.1:c.44G= NP_001350520.1:p.Gly15=
NM_001363592.1:c.362G= NP_001350521.1:p.Gly121=
NM_001363593.1:c.-814G= NP_001350522.1:n.-814G=
NR_134580.1:n.942G=
XM_005274210.4:c.362G= XP_005274267.1:p.Gly121=
XM_005274215.4:c.44G= XP_005274272.1:p.Gly15=
XM_005274216.4:c.182G= XP_005274273.1:p.Gly61=
XM_005274219.4:c.362G= XP_005274276.1:p.Gly121=
XM_005274221.4:c.362G= XP_005274278.1:p.Gly121=
XM_011545229.3:c.362G= XP_011543531.1:p.Gly121=
XM_011545230.3:c.269G= XP_011543532.1:p.Gly90=
XM_017018230.2:c.44G= XP_016873719.1:p.Gly15=
XR_001747952.2:n.860G=
XR_001747953.2:n.1052G=
XR_001747954.2:n.1052G=
XR_002957249.1:n.1906C=
NM_004183.4:c.362G= MANE Select NP_004174.1:p.Gly121=
NM_001139443.2:c.182G= NP_001132915.1:p.Gly61=
NM_001300786.2:c.182G= NP_001287715.1:p.Gly61=
NM_001300787.2:c.182G= NP_001287716.1:p.Gly61=
NM_001363591.2:c.44G= NP_001350520.1:p.Gly15=
NM_001363593.2:c.-814G= NP_001350522.1:n.-814G=
NR_134580.2:n.475G=