Canonical Allele Identifier: CA227847

Gene: BEST1

Linked Data

• ClinVar Variation Id: 99775
• ClinVar RCV Id: RCV000086194
• dbSNP Id: rs281865263
• MyVariant Identifiers: chr11:g.61727007A>G (hg19) ; chr11:g.61959535A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959535A>G , CM000673.2:g.61959535A>G	GRCh38
NC_000011.9:g.61727007A>G , CM000673.1:g.61727007A>G	GRCh37
NC_000011.8:g.61483583A>G	NCBI36
NG_009033.1:g.14652A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.905A>G MANE Select	ENSP00000367282.4:p.Asp302Gly
ENST00000378043.8:c.905A>G	ENSP00000367282.4:p.Asp302Gly
ENST00000449131.6:c.725A>G	ENSP00000399709.2:p.Asp242Gly
ENST00000524877.5:n.2536A>G
ENST00000524926.5:c.1108A>G	ENSP00000432681.1:p.Met370Val
ENST00000526988.1:c.790A>G	ENSP00000433195.1:p.Met264Val
ENST00000534553.5:c.164-2720A>G	ENSP00000431189.1:n.164-2720A>G
NM_001139443.1:c.725A>G	NP_001132915.1:p.Asp242Gly
NM_001300786.1:c.688-357A>G	NP_001287715.1:n.688-357A>G
NM_001300787.1:c.725A>G	NP_001287716.1:p.Asp242Gly
NM_004183.3:c.905A>G	NP_004174.1:p.Asp302Gly
XM_005274210.2:c.905A>G	XP_005274267.1:p.Asp302Gly
XM_005274215.2:c.587A>G	XP_005274272.1:p.Asp196Gly
XM_005274216.2:c.928A>G	XP_005274273.1:p.Met310Val
XM_005274218.3:c.790A>G	XP_005274275.1:p.Met264Val
XM_005274219.2:c.867+1237A>G	XP_005274276.1:n.867+1237A>G
XM_005274221.2:c.714+2071A>G	XP_005274278.1:n.714+2071A>G
XM_011545229.1:c.905A>G	XP_011543531.1:p.Asp302Gly
XM_011545230.1:c.812A>G	XP_011543532.1:p.Asp271Gly
XM_011545231.1:c.587A>G	XP_011543533.1:p.Asp196Gly
XM_011545232.1:c.1108A>G	XP_011543534.1:p.Met370Val
XM_011545233.1:c.62A>G	XP_011543535.1:p.Asp21Gly
NM_001363591.1:c.587A>G	NP_001350520.1:p.Asp196Gly
NM_001363592.1:c.1108A>G	NP_001350521.1:p.Met370Val
NM_001363593.1:c.-68A>G	NP_001350522.1:n.-68A>G
NR_134580.1:n.1688A>G
XM_005274210.4:c.905A>G	XP_005274267.1:p.Asp302Gly
XM_005274215.4:c.587A>G	XP_005274272.1:p.Asp196Gly
XM_005274216.4:c.928A>G	XP_005274273.1:p.Met310Val
XM_005274219.4:c.867+1237A>G	XP_005274276.1:n.867+1237A>G
XM_005274221.4:c.714+2071A>G	XP_005274278.1:n.714+2071A>G
XM_011545229.3:c.905A>G	XP_011543531.1:p.Asp302Gly
XM_011545230.3:c.812A>G	XP_011543532.1:p.Asp271Gly
XM_011545233.3:c.62A>G	XP_011543535.1:p.Asp21Gly
XM_017018230.2:c.790A>G	XP_016873719.1:p.Met264Val
XR_001747952.2:n.1606A>G
XR_001747953.2:n.1557+1237A>G
XR_001747954.2:n.1404+2071A>G
XR_001748245.1:n.196+197T>C
XR_002957249.1:n.196+197T>C
NM_004183.4:c.905A>G MANE Select	NP_004174.1:p.Asp302Gly
NM_001139443.2:c.725A>G	NP_001132915.1:p.Asp242Gly
NM_001300786.2:c.688-357A>G	NP_001287715.1:n.688-357A>G
NM_001300787.2:c.725A>G	NP_001287716.1:p.Asp242Gly
NM_001363591.2:c.587A>G	NP_001350520.1:p.Asp196Gly
NM_001363593.2:c.-68A>G	NP_001350522.1:n.-68A>G
NR_134580.2:n.1221A>G