Canonical Allele Identifier: CA1977560858

Gene: BEST1

Linked Data

• dbSNP Id: rs1941198987
• gnomAD v4: 11-61955432-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61955432G>T , CM000673.2:g.61955432G>T	GRCh38
NC_000011.9:g.61722904G>T , CM000673.1:g.61722904G>T	GRCh37
NC_000011.8:g.61479480G>T	NCBI36
NG_009033.1:g.10549G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.247+231G>T MANE Select	ENSP00000367282.4:n.247+231G>T
ENST00000378043.8:c.247+231G>T	ENSP00000367282.4:n.247+231G>T
ENST00000449131.6:c.67+231G>T	ENSP00000399709.2:n.67+231G>T
ENST00000524877.5:n.394G>T
ENST00000524926.5:c.247+231G>T	ENSP00000432681.1:n.247+231G>T
ENST00000526988.1:c.-72+45G>T	ENSP00000433195.1:n.-72+45G>T
ENST00000529265.5:n.170+231G>T
ENST00000533521.5:n.586G>T
ENST00000534553.5:c.-72+45G>T	ENSP00000431189.1:n.-72+45G>T
NM_001139443.1:c.67+231G>T	NP_001132915.1:n.67+231G>T
NM_001300786.1:c.67+231G>T	NP_001287715.1:n.67+231G>T
NM_001300787.1:c.67+231G>T	NP_001287716.1:n.67+231G>T
NM_004183.3:c.247+231G>T	NP_004174.1:n.247+231G>T
XM_005274210.2:c.247+231G>T	XP_005274267.1:n.247+231G>T
XM_005274215.2:c.-72+45G>T	XP_005274272.1:n.-72+45G>T
XM_005274216.2:c.67+231G>T	XP_005274273.1:n.67+231G>T
XM_005274218.3:c.-72+45G>T	XP_005274275.1:n.-72+45G>T
XM_005274219.2:c.247+231G>T	XP_005274276.1:n.247+231G>T
XM_005274221.2:c.247+231G>T	XP_005274278.1:n.247+231G>T
XM_011545229.1:c.247+231G>T	XP_011543531.1:n.247+231G>T
XM_011545230.1:c.154+231G>T	XP_011543532.1:n.154+231G>T
XM_011545231.1:c.-72+45G>T	XP_011543533.1:n.-72+45G>T
XM_011545232.1:c.247+231G>T	XP_011543534.1:n.247+231G>T
NM_001363591.1:c.-72+45G>T	NP_001350520.1:n.-72+45G>T
NM_001363592.1:c.247+231G>T	NP_001350521.1:n.247+231G>T
NM_001363593.1:c.-929+45G>T	NP_001350522.1:n.-929+45G>T
NR_134580.1:n.827+231G>T
XM_005274210.4:c.247+231G>T	XP_005274267.1:n.247+231G>T
XM_005274215.4:c.-72+45G>T	XP_005274272.1:n.-72+45G>T
XM_005274216.4:c.67+231G>T	XP_005274273.1:n.67+231G>T
XM_005274219.4:c.247+231G>T	XP_005274276.1:n.247+231G>T
XM_005274221.4:c.247+231G>T	XP_005274278.1:n.247+231G>T
XM_011545229.3:c.247+231G>T	XP_011543531.1:n.247+231G>T
XM_011545230.3:c.154+231G>T	XP_011543532.1:n.154+231G>T
XM_017018230.2:c.-72+45G>T	XP_016873719.1:n.-72+45G>T
XR_001747952.2:n.745+231G>T
XR_001747953.2:n.937+231G>T
XR_001747954.2:n.937+231G>T
XR_002957249.1:n.2306C>A
NM_004183.4:c.247+231G>T MANE Select	NP_004174.1:n.247+231G>T
NM_001139443.2:c.67+231G>T	NP_001132915.1:n.67+231G>T
NM_001300786.2:c.67+231G>T	NP_001287715.1:n.67+231G>T
NM_001300787.2:c.67+231G>T	NP_001287716.1:n.67+231G>T
NM_001363591.2:c.-72+45G>T	NP_001350520.1:n.-72+45G>T
NM_001363593.2:c.-929+45G>T	NP_001350522.1:n.-929+45G>T
NR_134580.2:n.360+231G>T