Canonical Allele Identifier: CA380843959

Gene: BEST1

Linked Data

• ClinVar Variation Id: 623155
• ClinVar RCV Id: RCV000761261
• dbSNP Id: rs1565036465
• gnomAD v4: 11-61959545-T-G
• MyVariant Identifiers: chr11:g.61727017T>G (hg19) ; chr11:g.61959545T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959545T>G , CM000673.2:g.61959545T>G	GRCh38
NC_000011.9:g.61727017T>G , CM000673.1:g.61727017T>G	GRCh37
NC_000011.8:g.61483593T>G	NCBI36
NG_009033.1:g.14662T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.915T>G MANE Select	ENSP00000367282.4:p.Phe305Leu
ENST00000378043.8:c.915T>G	ENSP00000367282.4:p.Phe305Leu
ENST00000449131.6:c.735T>G	ENSP00000399709.2:p.Phe245Leu
ENST00000524877.5:n.2546T>G
ENST00000524926.5:c.1118T>G	ENSP00000432681.1:p.Leu373Trp
ENST00000526988.1:c.800T>G	ENSP00000433195.1:p.Leu267Trp
ENST00000534553.5:c.164-2710T>G	ENSP00000431189.1:n.164-2710T>G
NM_001139443.1:c.735T>G	NP_001132915.1:p.Phe245Leu
NM_001300786.1:c.688-347T>G	NP_001287715.1:n.688-347T>G
NM_001300787.1:c.735T>G	NP_001287716.1:p.Phe245Leu
NM_004183.3:c.915T>G	NP_004174.1:p.Phe305Leu
XM_005274210.2:c.915T>G	XP_005274267.1:p.Phe305Leu
XM_005274215.2:c.597T>G	XP_005274272.1:p.Phe199Leu
XM_005274216.2:c.938T>G	XP_005274273.1:p.Leu313Trp
XM_005274218.3:c.800T>G	XP_005274275.1:p.Leu267Trp
XM_005274219.2:c.867+1247T>G	XP_005274276.1:n.867+1247T>G
XM_005274221.2:c.714+2081T>G	XP_005274278.1:n.714+2081T>G
XM_011545229.1:c.915T>G	XP_011543531.1:p.Phe305Leu
XM_011545230.1:c.822T>G	XP_011543532.1:p.Phe274Leu
XM_011545231.1:c.597T>G	XP_011543533.1:p.Phe199Leu
XM_011545232.1:c.1118T>G	XP_011543534.1:p.Leu373Trp
XM_011545233.1:c.72T>G	XP_011543535.1:p.Phe24Leu
NM_001363591.1:c.597T>G	NP_001350520.1:p.Phe199Leu
NM_001363592.1:c.1118T>G	NP_001350521.1:p.Leu373Trp
NM_001363593.1:c.-58T>G	NP_001350522.1:n.-58T>G
NR_134580.1:n.1698T>G
XM_005274210.4:c.915T>G	XP_005274267.1:p.Phe305Leu
XM_005274215.4:c.597T>G	XP_005274272.1:p.Phe199Leu
XM_005274216.4:c.938T>G	XP_005274273.1:p.Leu313Trp
XM_005274219.4:c.867+1247T>G	XP_005274276.1:n.867+1247T>G
XM_005274221.4:c.714+2081T>G	XP_005274278.1:n.714+2081T>G
XM_011545229.3:c.915T>G	XP_011543531.1:p.Phe305Leu
XM_011545230.3:c.822T>G	XP_011543532.1:p.Phe274Leu
XM_011545233.3:c.72T>G	XP_011543535.1:p.Phe24Leu
XM_017018230.2:c.800T>G	XP_016873719.1:p.Leu267Trp
XR_001747952.2:n.1616T>G
XR_001747953.2:n.1557+1247T>G
XR_001747954.2:n.1404+2081T>G
XR_001748245.1:n.196+187A>C
XR_002957249.1:n.196+187A>C
NM_004183.4:c.915T>G MANE Select	NP_004174.1:p.Phe305Leu
NM_001139443.2:c.735T>G	NP_001132915.1:p.Phe245Leu
NM_001300786.2:c.688-347T>G	NP_001287715.1:n.688-347T>G
NM_001300787.2:c.735T>G	NP_001287716.1:p.Phe245Leu
NM_001363591.2:c.597T>G	NP_001350520.1:p.Phe199Leu
NM_001363593.2:c.-58T>G	NP_001350522.1:n.-58T>G
NR_134580.2:n.1231T>G