Canonical Allele Identifier: CA6040823

Gene: BEST1

Linked Data

• dbSNP Id: rs755297144
• ExAC: 11:61724937 G / T
• gnomAD v2: 11-61724937-G-T
• gnomAD v4: 11-61957465-G-T
• MyVariant Identifiers: chr11:g.61724937G>T (hg19) ; chr11:g.61957465G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61957465G>T , CM000673.2:g.61957465G>T	GRCh38
NC_000011.9:g.61724937G>T , CM000673.1:g.61724937G>T	GRCh37
NC_000011.8:g.61481513G>T	NCBI36
NG_009033.1:g.12582G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000378043.9:c.714+1G>T MANE Select	ENSP00000367282.4:n.714+1G>T
ENST00000378043.8:c.714+1G>T	ENSP00000367282.4:n.714+1G>T
ENST00000449131.6:c.534+1G>T	ENSP00000399709.2:n.534+1G>T
ENST00000524877.5:n.1146+1G>T
ENST00000524926.5:c.714+1G>T	ENSP00000432681.1:n.714+1G>T
ENST00000526988.1:c.396+1G>T	ENSP00000433195.1:n.396+1G>T
ENST00000529265.5:n.637+1G>T
ENST00000534553.5:c.163+1514G>T	ENSP00000431189.1:n.163+1514G>T
NM_001139443.1:c.534+1G>T	NP_001132915.1:n.534+1G>T
NM_001300786.1:c.534+1G>T	NP_001287715.1:n.534+1G>T
NM_001300787.1:c.534+1G>T	NP_001287716.1:n.534+1G>T
NM_004183.3:c.714+1G>T	NP_004174.1:n.714+1G>T
XM_005274210.2:c.714+1G>T	XP_005274267.1:n.714+1G>T
XM_005274215.2:c.396+1G>T	XP_005274272.1:n.396+1G>T
XM_005274216.2:c.534+1G>T	XP_005274273.1:n.534+1G>T
XM_005274218.3:c.396+1G>T	XP_005274275.1:n.396+1G>T
XM_005274219.2:c.714+1G>T	XP_005274276.1:n.714+1G>T
XM_005274221.2:c.714+1G>T	XP_005274278.1:n.714+1G>T
XM_011545229.1:c.714+1G>T	XP_011543531.1:n.714+1G>T
XM_011545230.1:c.621+1G>T	XP_011543532.1:n.621+1G>T
XM_011545231.1:c.396+1G>T	XP_011543533.1:n.396+1G>T
XM_011545232.1:c.714+1G>T	XP_011543534.1:n.714+1G>T
NM_001363591.1:c.396+1G>T	NP_001350520.1:n.396+1G>T
NM_001363592.1:c.714+1G>T	NP_001350521.1:n.714+1G>T
NM_001363593.1:c.-462+1G>T	NP_001350522.1:n.-462+1G>T
NR_134580.1:n.1294+1G>T
XM_005274210.4:c.714+1G>T	XP_005274267.1:n.714+1G>T
XM_005274215.4:c.396+1G>T	XP_005274272.1:n.396+1G>T
XM_005274216.4:c.534+1G>T	XP_005274273.1:n.534+1G>T
XM_005274219.4:c.714+1G>T	XP_005274276.1:n.714+1G>T
XM_005274221.4:c.714+1G>T	XP_005274278.1:n.714+1G>T
XM_011545229.3:c.714+1G>T	XP_011543531.1:n.714+1G>T
XM_011545230.3:c.621+1G>T	XP_011543532.1:n.621+1G>T
XM_017018230.2:c.396+1G>T	XP_016873719.1:n.396+1G>T
XR_001747952.2:n.1212+1G>T
XR_001747953.2:n.1404+1G>T
XR_001747954.2:n.1404+1G>T
XR_001748245.1:n.1264C>A
XR_002957249.1:n.506-233C>A
NM_004183.4:c.714+1G>T MANE Select	NP_004174.1:n.714+1G>T
NM_001139443.2:c.534+1G>T	NP_001132915.1:n.534+1G>T
NM_001300786.2:c.534+1G>T	NP_001287715.1:n.534+1G>T
NM_001300787.2:c.534+1G>T	NP_001287716.1:n.534+1G>T
NM_001363591.2:c.396+1G>T	NP_001350520.1:n.396+1G>T
NM_001363593.2:c.-462+1G>T	NP_001350522.1:n.-462+1G>T
NR_134580.2:n.827+1G>T