Canonical Allele Identifier: CA380843907

Gene: BEST1

Linked Data

• ClinVar Variation Id: 1048121
• ClinVar RCV Id: RCV001352947
• dbSNP Id: rs1941816094
• MyVariant Identifiers: chr11:g.61727009G>T (hg19) ; chr11:g.61959537G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959537G>T , CM000673.2:g.61959537G>T	GRCh38
NC_000011.9:g.61727009G>T , CM000673.1:g.61727009G>T	GRCh37
NC_000011.8:g.61483585G>T	NCBI36
NG_009033.1:g.14654G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.907G>T MANE Select	ENSP00000367282.4:p.Asp303Tyr
ENST00000378043.8:c.907G>T	ENSP00000367282.4:p.Asp303Tyr
ENST00000449131.6:c.727G>T	ENSP00000399709.2:p.Asp243Tyr
ENST00000524877.5:n.2538G>T
ENST00000524926.5:c.1110G>T	ENSP00000432681.1:p.Met370Ile
ENST00000526988.1:c.792G>T	ENSP00000433195.1:p.Met264Ile
ENST00000534553.5:c.164-2718G>T	ENSP00000431189.1:n.164-2718G>T
NM_001139443.1:c.727G>T	NP_001132915.1:p.Asp243Tyr
NM_001300786.1:c.688-355G>T	NP_001287715.1:n.688-355G>T
NM_001300787.1:c.727G>T	NP_001287716.1:p.Asp243Tyr
NM_004183.3:c.907G>T	NP_004174.1:p.Asp303Tyr
XM_005274210.2:c.907G>T	XP_005274267.1:p.Asp303Tyr
XM_005274215.2:c.589G>T	XP_005274272.1:p.Asp197Tyr
XM_005274216.2:c.930G>T	XP_005274273.1:p.Met310Ile
XM_005274218.3:c.792G>T	XP_005274275.1:p.Met264Ile
XM_005274219.2:c.867+1239G>T	XP_005274276.1:n.867+1239G>T
XM_005274221.2:c.714+2073G>T	XP_005274278.1:n.714+2073G>T
XM_011545229.1:c.907G>T	XP_011543531.1:p.Asp303Tyr
XM_011545230.1:c.814G>T	XP_011543532.1:p.Asp272Tyr
XM_011545231.1:c.589G>T	XP_011543533.1:p.Asp197Tyr
XM_011545232.1:c.1110G>T	XP_011543534.1:p.Met370Ile
XM_011545233.1:c.64G>T	XP_011543535.1:p.Asp22Tyr
NM_001363591.1:c.589G>T	NP_001350520.1:p.Asp197Tyr
NM_001363592.1:c.1110G>T	NP_001350521.1:p.Met370Ile
NM_001363593.1:c.-66G>T	NP_001350522.1:n.-66G>T
NR_134580.1:n.1690G>T
XM_005274210.4:c.907G>T	XP_005274267.1:p.Asp303Tyr
XM_005274215.4:c.589G>T	XP_005274272.1:p.Asp197Tyr
XM_005274216.4:c.930G>T	XP_005274273.1:p.Met310Ile
XM_005274219.4:c.867+1239G>T	XP_005274276.1:n.867+1239G>T
XM_005274221.4:c.714+2073G>T	XP_005274278.1:n.714+2073G>T
XM_011545229.3:c.907G>T	XP_011543531.1:p.Asp303Tyr
XM_011545230.3:c.814G>T	XP_011543532.1:p.Asp272Tyr
XM_011545233.3:c.64G>T	XP_011543535.1:p.Asp22Tyr
XM_017018230.2:c.792G>T	XP_016873719.1:p.Met264Ile
XR_001747952.2:n.1608G>T
XR_001747953.2:n.1557+1239G>T
XR_001747954.2:n.1404+2073G>T
XR_001748245.1:n.196+195C>A
XR_002957249.1:n.196+195C>A
NM_004183.4:c.907G>T MANE Select	NP_004174.1:p.Asp303Tyr
NM_001139443.2:c.727G>T	NP_001132915.1:p.Asp243Tyr
NM_001300786.2:c.688-355G>T	NP_001287715.1:n.688-355G>T
NM_001300787.2:c.727G>T	NP_001287716.1:p.Asp243Tyr
NM_001363591.2:c.589G>T	NP_001350520.1:p.Asp197Tyr
NM_001363593.2:c.-66G>T	NP_001350522.1:n.-66G>T
NR_134580.2:n.1223G>T