Canonical Allele Identifier: CA380834587
Gene: BEST1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61955820A>T , CM000673.2:g.61955820A>T GRCh38
NC_000011.9:g.61723292A>T , CM000673.1:g.61723292A>T GRCh37
NC_000011.8:g.61479868A>T NCBI36
NG_009033.1:g.10937A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378043.9:c.350A>T MANE Select ENSP00000367282.4:p.Lys117Met
ENST00000378043.8:c.350A>T ENSP00000367282.4:p.Lys117Met
ENST00000449131.6:c.170A>T ENSP00000399709.2:p.Lys57Met
ENST00000524877.5:n.782A>T
ENST00000524926.5:c.350A>T ENSP00000432681.1:p.Lys117Met
ENST00000526988.1:c.32A>T ENSP00000433195.1:p.Lys11Met
ENST00000529265.5:n.273A>T
ENST00000533521.5:n.974A>T
ENST00000534553.5:c.32A>T ENSP00000431189.1:p.Lys11Met
NM_001139443.1:c.170A>T NP_001132915.1:p.Lys57Met
NM_001300786.1:c.170A>T NP_001287715.1:p.Lys57Met
NM_001300787.1:c.170A>T NP_001287716.1:p.Lys57Met
NM_004183.3:c.350A>T NP_004174.1:p.Lys117Met
XM_005274210.2:c.350A>T XP_005274267.1:p.Lys117Met
XM_005274215.2:c.32A>T XP_005274272.1:p.Lys11Met
XM_005274216.2:c.170A>T XP_005274273.1:p.Lys57Met
XM_005274218.3:c.32A>T XP_005274275.1:p.Lys11Met
XM_005274219.2:c.350A>T XP_005274276.1:p.Lys117Met
XM_005274221.2:c.350A>T XP_005274278.1:p.Lys117Met
XM_011545229.1:c.350A>T XP_011543531.1:p.Lys117Met
XM_011545230.1:c.257A>T XP_011543532.1:p.Lys86Met
XM_011545231.1:c.32A>T XP_011543533.1:p.Lys11Met
XM_011545232.1:c.350A>T XP_011543534.1:p.Lys117Met
NM_001363591.1:c.32A>T NP_001350520.1:p.Lys11Met
NM_001363592.1:c.350A>T NP_001350521.1:p.Lys117Met
NM_001363593.1:c.-826A>T NP_001350522.1:n.-826A>T
NR_134580.1:n.930A>T
XM_005274210.4:c.350A>T XP_005274267.1:p.Lys117Met
XM_005274215.4:c.32A>T XP_005274272.1:p.Lys11Met
XM_005274216.4:c.170A>T XP_005274273.1:p.Lys57Met
XM_005274219.4:c.350A>T XP_005274276.1:p.Lys117Met
XM_005274221.4:c.350A>T XP_005274278.1:p.Lys117Met
XM_011545229.3:c.350A>T XP_011543531.1:p.Lys117Met
XM_011545230.3:c.257A>T XP_011543532.1:p.Lys86Met
XM_017018230.2:c.32A>T XP_016873719.1:p.Lys11Met
XR_001747952.2:n.848A>T
XR_001747953.2:n.1040A>T
XR_001747954.2:n.1040A>T
XR_002957249.1:n.1918T>A
NM_004183.4:c.350A>T MANE Select NP_004174.1:p.Lys117Met
NM_001139443.2:c.170A>T NP_001132915.1:p.Lys57Met
NM_001300786.2:c.170A>T NP_001287715.1:p.Lys57Met
NM_001300787.2:c.170A>T NP_001287716.1:p.Lys57Met
NM_001363591.2:c.32A>T NP_001350520.1:p.Lys11Met
NM_001363593.2:c.-826A>T NP_001350522.1:n.-826A>T
NR_134580.2:n.463A>T