Canonical Allele Identifier: CA179805

Gene: BEST1

Linked Data

• ClinVar Variation Id: 99693
• ClinVar RCV Id: RCV002490749 ; RCV003888494
• dbSNP Id: rs1109748
• ExAC: 11:61722645 C / A
• gnomAD v2: 11-61722645-C-A
• gnomAD v3: 11-61955173-C-A
• gnomAD v4: 11-61955173-C-A
• MyVariant Identifiers: chr11:g.61722645C>A (hg19) ; chr11:g.61955173C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61955173C>A , CM000673.2:g.61955173C>A	GRCh38
NC_000011.9:g.61722645C>A , CM000673.1:g.61722645C>A	GRCh37
NC_000011.8:g.61479221C>A	NCBI36
NG_009033.1:g.10290C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000378043.9:c.219C>A MANE Select	ENSP00000367282.4:p.Ile73=
ENST00000378043.8:c.219C>A	ENSP00000367282.4:p.Ile73=
ENST00000449131.6:c.39C>A	ENSP00000399709.2:p.Ile13=
ENST00000524877.5:n.135C>A
ENST00000524926.5:c.219C>A	ENSP00000432681.1:p.Ile73=
ENST00000526988.1:c.-145C>A	ENSP00000433195.1:n.-145C>A
ENST00000529265.5:n.142C>A
ENST00000533521.5:n.327C>A
ENST00000534553.5:c.-145C>A	ENSP00000431189.1:n.-145C>A
NM_001139443.1:c.39C>A	NP_001132915.1:p.Ile13=
NM_001300786.1:c.39C>A	NP_001287715.1:p.Ile13=
NM_001300787.1:c.39C>A	NP_001287716.1:p.Ile13=
NM_004183.3:c.219C>A	NP_004174.1:p.Ile73=
XM_005274210.2:c.219C>A	XP_005274267.1:p.Ile73=
XM_005274216.2:c.39C>A	XP_005274273.1:p.Ile13=
XM_005274218.3:c.-145C>A	XP_005274275.1:n.-145C>A
XM_005274219.2:c.219C>A	XP_005274276.1:p.Ile73=
XM_005274221.2:c.219C>A	XP_005274278.1:p.Ile73=
XM_011545229.1:c.219C>A	XP_011543531.1:p.Ile73=
XM_011545230.1:c.126C>A	XP_011543532.1:p.Ile42=
XM_011545231.1:c.-145C>A	XP_011543533.1:n.-145C>A
XM_011545232.1:c.219C>A	XP_011543534.1:p.Ile73=
NM_001363591.1:c.-286C>A	NP_001350520.1:n.-286C>A
NM_001363592.1:c.219C>A	NP_001350521.1:p.Ile73=
NM_001363593.1:c.-1143C>A	NP_001350522.1:n.-1143C>A
NR_134580.1:n.799C>A
XM_005274210.4:c.219C>A	XP_005274267.1:p.Ile73=
XM_005274215.4:c.-286C>A	XP_005274272.1:n.-286C>A
XM_005274216.4:c.39C>A	XP_005274273.1:p.Ile13=
XM_005274219.4:c.219C>A	XP_005274276.1:p.Ile73=
XM_005274221.4:c.219C>A	XP_005274278.1:p.Ile73=
XM_011545229.3:c.219C>A	XP_011543531.1:p.Ile73=
XM_011545230.3:c.126C>A	XP_011543532.1:p.Ile42=
XM_017018230.2:c.-286C>A	XP_016873719.1:n.-286C>A
XR_001747952.2:n.717C>A
XR_001747953.2:n.909C>A
XR_001747954.2:n.909C>A
XR_002957249.1:n.2565G>T
NM_004183.4:c.219C>A MANE Select	NP_004174.1:p.Ile73=
NM_001139443.2:c.39C>A	NP_001132915.1:p.Ile13=
NM_001300786.2:c.39C>A	NP_001287715.1:p.Ile13=
NM_001300787.2:c.39C>A	NP_001287716.1:p.Ile13=
NR_134580.2:n.332C>A