Canonical Allele Identifier: CA227746

Gene: BEST1

Linked Data

• ClinVar Variation Id: 99696
• ClinVar RCV Id: RCV000086105
• dbSNP Id: rs281865530
• MyVariant Identifiers: chr11:g.61722670C>G (hg19) ; chr11:g.61955198C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61955198C>G , CM000673.2:g.61955198C>G	GRCh38
NC_000011.9:g.61722670C>G , CM000673.1:g.61722670C>G	GRCh37
NC_000011.8:g.61479246C>G	NCBI36
NG_009033.1:g.10315C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.244C>G MANE Select	ENSP00000367282.4:p.Leu82Val
ENST00000378043.8:c.244C>G	ENSP00000367282.4:p.Leu82Val
ENST00000449131.6:c.64C>G	ENSP00000399709.2:p.Leu22Val
ENST00000524877.5:n.160C>G
ENST00000524926.5:c.244C>G	ENSP00000432681.1:p.Leu82Val
ENST00000526988.1:c.-120C>G	ENSP00000433195.1:n.-120C>G
ENST00000529265.5:n.167C>G
ENST00000533521.5:n.352C>G
ENST00000534553.5:c.-120C>G	ENSP00000431189.1:n.-120C>G
NM_001139443.1:c.64C>G	NP_001132915.1:p.Leu22Val
NM_001300786.1:c.64C>G	NP_001287715.1:p.Leu22Val
NM_001300787.1:c.64C>G	NP_001287716.1:p.Leu22Val
NM_004183.3:c.244C>G	NP_004174.1:p.Leu82Val
XM_005274210.2:c.244C>G	XP_005274267.1:p.Leu82Val
XM_005274216.2:c.64C>G	XP_005274273.1:p.Leu22Val
XM_005274218.3:c.-120C>G	XP_005274275.1:n.-120C>G
XM_005274219.2:c.244C>G	XP_005274276.1:p.Leu82Val
XM_005274221.2:c.244C>G	XP_005274278.1:p.Leu82Val
XM_011545229.1:c.244C>G	XP_011543531.1:p.Leu82Val
XM_011545230.1:c.151C>G	XP_011543532.1:p.Leu51Val
XM_011545231.1:c.-120C>G	XP_011543533.1:n.-120C>G
XM_011545232.1:c.244C>G	XP_011543534.1:p.Leu82Val
NM_001363591.1:c.-261C>G	NP_001350520.1:n.-261C>G
NM_001363592.1:c.244C>G	NP_001350521.1:p.Leu82Val
NM_001363593.1:c.-1118C>G	NP_001350522.1:n.-1118C>G
NR_134580.1:n.824C>G
XM_005274210.4:c.244C>G	XP_005274267.1:p.Leu82Val
XM_005274215.4:c.-261C>G	XP_005274272.1:n.-261C>G
XM_005274216.4:c.64C>G	XP_005274273.1:p.Leu22Val
XM_005274219.4:c.244C>G	XP_005274276.1:p.Leu82Val
XM_005274221.4:c.244C>G	XP_005274278.1:p.Leu82Val
XM_011545229.3:c.244C>G	XP_011543531.1:p.Leu82Val
XM_011545230.3:c.151C>G	XP_011543532.1:p.Leu51Val
XM_017018230.2:c.-261C>G	XP_016873719.1:n.-261C>G
XR_001747952.2:n.742C>G
XR_001747953.2:n.934C>G
XR_001747954.2:n.934C>G
XR_002957249.1:n.2540G>C
NM_004183.4:c.244C>G MANE Select	NP_004174.1:p.Leu82Val
NM_001139443.2:c.64C>G	NP_001132915.1:p.Leu22Val
NM_001300786.2:c.64C>G	NP_001287715.1:p.Leu22Val
NM_001300787.2:c.64C>G	NP_001287716.1:p.Leu22Val
NR_134580.2:n.357C>G