Canonical Allele Identifier: CA115730

Gene: BEST1

Linked Data

• ClinVar Variation Id: 2745
• ClinVar RCV Id: RCV000002868 ; RCV002054410
• dbSNP Id: rs121918290
• MyVariant Identifiers: chr11:g.61725618G>A (hg19) ; chr11:g.61958146G>A (hg38)
• PubMed: PMID:12543751 ; PMID:15452077

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61958146G>A , CM000673.2:g.61958146G>A	GRCh38
NC_000011.9:g.61725618G>A , CM000673.1:g.61725618G>A	GRCh37
NC_000011.8:g.61482194G>A	NCBI36
NG_009033.1:g.13263G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000378043.9:c.715G>A MANE Select	ENSP00000367282.4:p.Val239Met
ENST00000378043.8:c.715G>A	ENSP00000367282.4:p.Val239Met
ENST00000449131.6:c.535G>A	ENSP00000399709.2:p.Val179Met
ENST00000524877.5:n.1147G>A
ENST00000524926.5:c.715G>A	ENSP00000432681.1:p.Val239Met
ENST00000526988.1:c.397G>A	ENSP00000433195.1:p.Val133Met
ENST00000529265.5:n.638G>A
ENST00000534553.5:c.163+2195G>A	ENSP00000431189.1:n.163+2195G>A
NM_001139443.1:c.535G>A	NP_001132915.1:p.Val179Met
NM_001300786.1:c.535G>A	NP_001287715.1:p.Val179Met
NM_001300787.1:c.535G>A	NP_001287716.1:p.Val179Met
NM_004183.3:c.715G>A	NP_004174.1:p.Val239Met
XM_005274210.2:c.715G>A	XP_005274267.1:p.Val239Met
XM_005274215.2:c.397G>A	XP_005274272.1:p.Val133Met
XM_005274216.2:c.535G>A	XP_005274273.1:p.Val179Met
XM_005274218.3:c.397G>A	XP_005274275.1:p.Val133Met
XM_005274219.2:c.715G>A	XP_005274276.1:p.Val239Met
XM_005274221.2:c.714+682G>A	XP_005274278.1:n.714+682G>A
XM_011545229.1:c.715G>A	XP_011543531.1:p.Val239Met
XM_011545230.1:c.622G>A	XP_011543532.1:p.Val208Met
XM_011545231.1:c.397G>A	XP_011543533.1:p.Val133Met
XM_011545232.1:c.715G>A	XP_011543534.1:p.Val239Met
NM_001363591.1:c.397G>A	NP_001350520.1:p.Val133Met
NM_001363592.1:c.715G>A	NP_001350521.1:p.Val239Met
NM_001363593.1:c.-461G>A	NP_001350522.1:n.-461G>A
NR_134580.1:n.1295G>A
XM_005274210.4:c.715G>A	XP_005274267.1:p.Val239Met
XM_005274215.4:c.397G>A	XP_005274272.1:p.Val133Met
XM_005274216.4:c.535G>A	XP_005274273.1:p.Val179Met
XM_005274219.4:c.715G>A	XP_005274276.1:p.Val239Met
XM_005274221.4:c.714+682G>A	XP_005274278.1:n.714+682G>A
XM_011545229.3:c.715G>A	XP_011543531.1:p.Val239Met
XM_011545230.3:c.622G>A	XP_011543532.1:p.Val208Met
XM_017018230.2:c.397G>A	XP_016873719.1:p.Val133Met
XR_001747952.2:n.1213G>A
XR_001747953.2:n.1405G>A
XR_001747954.2:n.1404+682G>A
XR_001748245.1:n.583C>T
XR_002957249.1:n.505+78C>T
NM_004183.4:c.715G>A MANE Select	NP_004174.1:p.Val239Met
NM_001139443.2:c.535G>A	NP_001132915.1:p.Val179Met
NM_001300786.2:c.535G>A	NP_001287715.1:p.Val179Met
NM_001300787.2:c.535G>A	NP_001287716.1:p.Val179Met
NM_001363591.2:c.397G>A	NP_001350520.1:p.Val133Met
NM_001363593.2:c.-461G>A	NP_001350522.1:n.-461G>A
NR_134580.2:n.828G>A