Canonical Allele Identifier: CA227857

Gene: BEST1

Linked Data

• ClinVar Variation Id: 99785
• ClinVar RCV Id: RCV000086204
• dbSNP Id: rs281865278
• gnomAD v2: 11-61727035-C-T
• gnomAD v3: 11-61959563-C-T
• gnomAD v4: 11-61959563-C-T
• COSMIC: COSM929549 ; COSM1585858
• MyVariant Identifiers: chr11:g.61727035C>T (hg19) ; chr11:g.61959563C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959563C>T , CM000673.2:g.61959563C>T	GRCh38
NC_000011.9:g.61727035C>T , CM000673.1:g.61727035C>T	GRCh37
NC_000011.8:g.61483611C>T	NCBI36
NG_009033.1:g.14680C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.933C>T MANE Select	ENSP00000367282.4:p.Val311=
ENST00000378043.8:c.933C>T	ENSP00000367282.4:p.Val311=
ENST00000449131.6:c.753C>T	ENSP00000399709.2:p.Val251=
ENST00000524877.5:n.2564C>T
ENST00000524926.5:c.1136C>T	ENSP00000432681.1:p.Ser379Leu
ENST00000526988.1:c.818C>T	ENSP00000433195.1:p.Ser273Leu
ENST00000534553.5:c.164-2692C>T	ENSP00000431189.1:n.164-2692C>T
NM_001139443.1:c.753C>T	NP_001132915.1:p.Val251=
NM_001300786.1:c.688-329C>T	NP_001287715.1:n.688-329C>T
NM_001300787.1:c.753C>T	NP_001287716.1:p.Val251=
NM_004183.3:c.933C>T	NP_004174.1:p.Val311=
XM_005274210.2:c.933C>T	XP_005274267.1:p.Val311=
XM_005274215.2:c.615C>T	XP_005274272.1:p.Val205=
XM_005274216.2:c.956C>T	XP_005274273.1:p.Ser319Leu
XM_005274218.3:c.818C>T	XP_005274275.1:p.Ser273Leu
XM_005274219.2:c.867+1265C>T	XP_005274276.1:n.867+1265C>T
XM_005274221.2:c.714+2099C>T	XP_005274278.1:n.714+2099C>T
XM_011545229.1:c.933C>T	XP_011543531.1:p.Val311=
XM_011545230.1:c.840C>T	XP_011543532.1:p.Val280=
XM_011545231.1:c.615C>T	XP_011543533.1:p.Val205=
XM_011545232.1:c.1136C>T	XP_011543534.1:p.Ser379Leu
XM_011545233.1:c.90C>T	XP_011543535.1:p.Val30=
NM_001363591.1:c.615C>T	NP_001350520.1:p.Val205=
NM_001363592.1:c.1136C>T	NP_001350521.1:p.Ser379Leu
NM_001363593.1:c.-40C>T	NP_001350522.1:n.-40C>T
NR_134580.1:n.1716C>T
XM_005274210.4:c.933C>T	XP_005274267.1:p.Val311=
XM_005274215.4:c.615C>T	XP_005274272.1:p.Val205=
XM_005274216.4:c.956C>T	XP_005274273.1:p.Ser319Leu
XM_005274219.4:c.867+1265C>T	XP_005274276.1:n.867+1265C>T
XM_005274221.4:c.714+2099C>T	XP_005274278.1:n.714+2099C>T
XM_011545229.3:c.933C>T	XP_011543531.1:p.Val311=
XM_011545230.3:c.840C>T	XP_011543532.1:p.Val280=
XM_011545233.3:c.90C>T	XP_011543535.1:p.Val30=
XM_017018230.2:c.818C>T	XP_016873719.1:p.Ser273Leu
XR_001747952.2:n.1634C>T
XR_001747953.2:n.1557+1265C>T
XR_001747954.2:n.1404+2099C>T
XR_001748245.1:n.196+169G>A
XR_002957249.1:n.196+169G>A
NM_004183.4:c.933C>T MANE Select	NP_004174.1:p.Val311=
NM_001139443.2:c.753C>T	NP_001132915.1:p.Val251=
NM_001300786.2:c.688-329C>T	NP_001287715.1:n.688-329C>T
NM_001300787.2:c.753C>T	NP_001287716.1:p.Val251=
NM_001363591.2:c.615C>T	NP_001350520.1:p.Val205=
NM_001363593.2:c.-40C>T	NP_001350522.1:n.-40C>T
NR_134580.2:n.1249C>T