Canonical Allele Identifier: CA380843621
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 544678
ClinVar RCV Id: RCV000655874
dbSNP Id: rs886039311

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61959504G>C , CM000673.2:g.61959504G>C GRCh38
NC_000011.9:g.61726976G>C , CM000673.1:g.61726976G>C GRCh37
NC_000011.8:g.61483552G>C NCBI36
NG_009033.1:g.14621G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000378043.9:c.874G>C MANE Select ENSP00000367282.4:p.Glu292Gln
ENST00000378043.8:c.874G>C ENSP00000367282.4:p.Glu292Gln
ENST00000449131.6:c.694G>C ENSP00000399709.2:p.Glu232Gln
ENST00000524877.5:n.2505G>C
ENST00000524926.5:c.1077G>C ENSP00000432681.1:p.Gln359His
ENST00000526988.1:c.759G>C ENSP00000433195.1:p.Gln253His
ENST00000534553.5:c.164-2751G>C ENSP00000431189.1:n.164-2751G>C
NM_001139443.1:c.694G>C NP_001132915.1:p.Glu232Gln
NM_001300786.1:c.688-388G>C NP_001287715.1:n.688-388G>C
NM_001300787.1:c.694G>C NP_001287716.1:p.Glu232Gln
NM_004183.3:c.874G>C NP_004174.1:p.Glu292Gln
XM_005274210.2:c.874G>C XP_005274267.1:p.Glu292Gln
XM_005274215.2:c.556G>C XP_005274272.1:p.Glu186Gln
XM_005274216.2:c.897G>C XP_005274273.1:p.Gln299His
XM_005274218.3:c.759G>C XP_005274275.1:p.Gln253His
XM_005274219.2:c.867+1206G>C XP_005274276.1:n.867+1206G>C
XM_005274221.2:c.714+2040G>C XP_005274278.1:n.714+2040G>C
XM_011545229.1:c.874G>C XP_011543531.1:p.Glu292Gln
XM_011545230.1:c.781G>C XP_011543532.1:p.Glu261Gln
XM_011545231.1:c.556G>C XP_011543533.1:p.Glu186Gln
XM_011545232.1:c.1077G>C XP_011543534.1:p.Gln359His
XM_011545233.1:c.31G>C XP_011543535.1:p.Glu11Gln
NM_001363591.1:c.556G>C NP_001350520.1:p.Glu186Gln
NM_001363592.1:c.1077G>C NP_001350521.1:p.Gln359His
NM_001363593.1:c.-99G>C NP_001350522.1:n.-99G>C
NR_134580.1:n.1657G>C
XM_005274210.4:c.874G>C XP_005274267.1:p.Glu292Gln
XM_005274215.4:c.556G>C XP_005274272.1:p.Glu186Gln
XM_005274216.4:c.897G>C XP_005274273.1:p.Gln299His
XM_005274219.4:c.867+1206G>C XP_005274276.1:n.867+1206G>C
XM_005274221.4:c.714+2040G>C XP_005274278.1:n.714+2040G>C
XM_011545229.3:c.874G>C XP_011543531.1:p.Glu292Gln
XM_011545230.3:c.781G>C XP_011543532.1:p.Glu261Gln
XM_011545233.3:c.31G>C XP_011543535.1:p.Glu11Gln
XM_017018230.2:c.759G>C XP_016873719.1:p.Gln253His
XR_001747952.2:n.1575G>C
XR_001747953.2:n.1557+1206G>C
XR_001747954.2:n.1404+2040G>C
XR_001748245.1:n.196+228C>G
XR_002957249.1:n.196+228C>G
NM_004183.4:c.874G>C MANE Select NP_004174.1:p.Glu292Gln
NM_001139443.2:c.694G>C NP_001132915.1:p.Glu232Gln
NM_001300786.2:c.688-388G>C NP_001287715.1:n.688-388G>C
NM_001300787.2:c.694G>C NP_001287716.1:p.Glu232Gln
NM_001363591.2:c.556G>C NP_001350520.1:p.Glu186Gln
NM_001363593.2:c.-99G>C NP_001350522.1:n.-99G>C
NR_134580.2:n.1190G>C