Canonical Allele Identifier: CA227754

Gene: BEST1

Linked Data

• ClinVar Variation Id: 99702
• ClinVar RCV Id: RCV000086113
• dbSNP Id: rs281865224
• gnomAD v2: 11-61723216-C-A
• gnomAD v3: 11-61955744-C-A
• gnomAD v4: 11-61955744-C-A
• MyVariant Identifiers: chr11:g.61723216C>A (hg19) ; chr11:g.61955744C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61955744C>A , CM000673.2:g.61955744C>A	GRCh38
NC_000011.9:g.61723216C>A , CM000673.1:g.61723216C>A	GRCh37
NC_000011.8:g.61479792C>A	NCBI36
NG_009033.1:g.10861C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000378043.9:c.274C>A MANE Select	ENSP00000367282.4:p.Arg92Ser
ENST00000378043.8:c.274C>A	ENSP00000367282.4:p.Arg92Ser
ENST00000449131.6:c.94C>A	ENSP00000399709.2:p.Arg32Ser
ENST00000524877.5:n.706C>A
ENST00000524926.5:c.274C>A	ENSP00000432681.1:p.Arg92Ser
ENST00000526988.1:c.-45C>A	ENSP00000433195.1:n.-45C>A
ENST00000529265.5:n.197C>A
ENST00000533521.5:n.898C>A
ENST00000534553.5:c.-45C>A	ENSP00000431189.1:n.-45C>A
NM_001139443.1:c.94C>A	NP_001132915.1:p.Arg32Ser
NM_001300786.1:c.94C>A	NP_001287715.1:p.Arg32Ser
NM_001300787.1:c.94C>A	NP_001287716.1:p.Arg32Ser
NM_004183.3:c.274C>A	NP_004174.1:p.Arg92Ser
XM_005274210.2:c.274C>A	XP_005274267.1:p.Arg92Ser
XM_005274215.2:c.-45C>A	XP_005274272.1:n.-45C>A
XM_005274216.2:c.94C>A	XP_005274273.1:p.Arg32Ser
XM_005274218.3:c.-45C>A	XP_005274275.1:n.-45C>A
XM_005274219.2:c.274C>A	XP_005274276.1:p.Arg92Ser
XM_005274221.2:c.274C>A	XP_005274278.1:p.Arg92Ser
XM_011545229.1:c.274C>A	XP_011543531.1:p.Arg92Ser
XM_011545230.1:c.181C>A	XP_011543532.1:p.Arg61Ser
XM_011545231.1:c.-45C>A	XP_011543533.1:n.-45C>A
XM_011545232.1:c.274C>A	XP_011543534.1:p.Arg92Ser
NM_001363591.1:c.-45C>A	NP_001350520.1:n.-45C>A
NM_001363592.1:c.274C>A	NP_001350521.1:p.Arg92Ser
NM_001363593.1:c.-902C>A	NP_001350522.1:n.-902C>A
NR_134580.1:n.854C>A
XM_005274210.4:c.274C>A	XP_005274267.1:p.Arg92Ser
XM_005274215.4:c.-45C>A	XP_005274272.1:n.-45C>A
XM_005274216.4:c.94C>A	XP_005274273.1:p.Arg32Ser
XM_005274219.4:c.274C>A	XP_005274276.1:p.Arg92Ser
XM_005274221.4:c.274C>A	XP_005274278.1:p.Arg92Ser
XM_011545229.3:c.274C>A	XP_011543531.1:p.Arg92Ser
XM_011545230.3:c.181C>A	XP_011543532.1:p.Arg61Ser
XM_017018230.2:c.-45C>A	XP_016873719.1:n.-45C>A
XR_001747952.2:n.772C>A
XR_001747953.2:n.964C>A
XR_001747954.2:n.964C>A
XR_002957249.1:n.1994G>T
NM_004183.4:c.274C>A MANE Select	NP_004174.1:p.Arg92Ser
NM_001139443.2:c.94C>A	NP_001132915.1:p.Arg32Ser
NM_001300786.2:c.94C>A	NP_001287715.1:p.Arg32Ser
NM_001300787.2:c.94C>A	NP_001287716.1:p.Arg32Ser
NM_001363591.2:c.-45C>A	NP_001350520.1:n.-45C>A
NM_001363593.2:c.-902C>A	NP_001350522.1:n.-902C>A
NR_134580.2:n.387C>A