Canonical Allele Identifier: CA115731
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2746
ClinVar RCV Id: RCV000002869
dbSNP Id: rs121918291

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61957457A>G , CM000673.2:g.61957457A>G GRCh38
NC_000011.9:g.61724929A>G , CM000673.1:g.61724929A>G GRCh37
NC_000011.8:g.61481505A>G NCBI36
NG_009033.1:g.12574A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000378043.9:c.707A>G MANE Select ENSP00000367282.4:p.Tyr236Cys
ENST00000378043.8:c.707A>G ENSP00000367282.4:p.Tyr236Cys
ENST00000449131.6:c.527A>G ENSP00000399709.2:p.Tyr176Cys
ENST00000524877.5:n.1139A>G
ENST00000524926.5:c.707A>G ENSP00000432681.1:p.Tyr236Cys
ENST00000526988.1:c.389A>G ENSP00000433195.1:p.Tyr130Cys
ENST00000529265.5:n.630A>G
ENST00000534553.5:c.163+1506A>G ENSP00000431189.1:n.163+1506A>G
NM_001139443.1:c.527A>G NP_001132915.1:p.Tyr176Cys
NM_001300786.1:c.527A>G NP_001287715.1:p.Tyr176Cys
NM_001300787.1:c.527A>G NP_001287716.1:p.Tyr176Cys
NM_004183.3:c.707A>G NP_004174.1:p.Tyr236Cys
XM_005274210.2:c.707A>G XP_005274267.1:p.Tyr236Cys
XM_005274215.2:c.389A>G XP_005274272.1:p.Tyr130Cys
XM_005274216.2:c.527A>G XP_005274273.1:p.Tyr176Cys
XM_005274218.3:c.389A>G XP_005274275.1:p.Tyr130Cys
XM_005274219.2:c.707A>G XP_005274276.1:p.Tyr236Cys
XM_005274221.2:c.707A>G XP_005274278.1:p.Tyr236Cys
XM_011545229.1:c.707A>G XP_011543531.1:p.Tyr236Cys
XM_011545230.1:c.614A>G XP_011543532.1:p.Tyr205Cys
XM_011545231.1:c.389A>G XP_011543533.1:p.Tyr130Cys
XM_011545232.1:c.707A>G XP_011543534.1:p.Tyr236Cys
NM_001363591.1:c.389A>G NP_001350520.1:p.Tyr130Cys
NM_001363592.1:c.707A>G NP_001350521.1:p.Tyr236Cys
NM_001363593.1:c.-469A>G NP_001350522.1:n.-469A>G
NR_134580.1:n.1287A>G
XM_005274210.4:c.707A>G XP_005274267.1:p.Tyr236Cys
XM_005274215.4:c.389A>G XP_005274272.1:p.Tyr130Cys
XM_005274216.4:c.527A>G XP_005274273.1:p.Tyr176Cys
XM_005274219.4:c.707A>G XP_005274276.1:p.Tyr236Cys
XM_005274221.4:c.707A>G XP_005274278.1:p.Tyr236Cys
XM_011545229.3:c.707A>G XP_011543531.1:p.Tyr236Cys
XM_011545230.3:c.614A>G XP_011543532.1:p.Tyr205Cys
XM_017018230.2:c.389A>G XP_016873719.1:p.Tyr130Cys
XR_001747952.2:n.1205A>G
XR_001747953.2:n.1397A>G
XR_001747954.2:n.1397A>G
XR_001748245.1:n.1272T>C
XR_002957249.1:n.506-225T>C
NM_004183.4:c.707A>G MANE Select NP_004174.1:p.Tyr236Cys
NM_001139443.2:c.527A>G NP_001132915.1:p.Tyr176Cys
NM_001300786.2:c.527A>G NP_001287715.1:p.Tyr176Cys
NM_001300787.2:c.527A>G NP_001287716.1:p.Tyr176Cys
NM_001363591.2:c.389A>G NP_001350520.1:p.Tyr130Cys
NM_001363593.2:c.-469A>G NP_001350522.1:n.-469A>G
NR_134580.2:n.820A>G