Canonical Allele Identifier: CA222937097

Gene: BEST1

Linked Data

• dbSNP Id: rs377090116
• gnomAD v2: 11-61724829-A-T
• gnomAD v3: 11-61957357-A-T
• gnomAD v4: 11-61957357-A-T
• MyVariant Identifiers: chr11:g.61724829A>T (hg19) ; chr11:g.61957357A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61957357A>T , CM000673.2:g.61957357A>T	GRCh38
NC_000011.9:g.61724829A>T , CM000673.1:g.61724829A>T	GRCh37
NC_000011.8:g.61481405A>T	NCBI36
NG_009033.1:g.12474A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000378043.9:c.637-30A>T MANE Select	ENSP00000367282.4:n.637-30A>T
ENST00000378043.8:c.637-30A>T	ENSP00000367282.4:n.637-30A>T
ENST00000449131.6:c.457-30A>T	ENSP00000399709.2:n.457-30A>T
ENST00000524877.5:n.1069-30A>T
ENST00000524926.5:c.637-30A>T	ENSP00000432681.1:n.637-30A>T
ENST00000526988.1:c.319-30A>T	ENSP00000433195.1:n.319-30A>T
ENST00000529265.5:n.560-30A>T
ENST00000534553.5:c.163+1406A>T	ENSP00000431189.1:n.163+1406A>T
NM_001139443.1:c.457-30A>T	NP_001132915.1:n.457-30A>T
NM_001300786.1:c.457-30A>T	NP_001287715.1:n.457-30A>T
NM_001300787.1:c.457-30A>T	NP_001287716.1:n.457-30A>T
NM_004183.3:c.637-30A>T	NP_004174.1:n.637-30A>T
XM_005274210.2:c.637-30A>T	XP_005274267.1:n.637-30A>T
XM_005274215.2:c.319-30A>T	XP_005274272.1:n.319-30A>T
XM_005274216.2:c.457-30A>T	XP_005274273.1:n.457-30A>T
XM_005274218.3:c.319-30A>T	XP_005274275.1:n.319-30A>T
XM_005274219.2:c.637-30A>T	XP_005274276.1:n.637-30A>T
XM_005274221.2:c.637-30A>T	XP_005274278.1:n.637-30A>T
XM_011545229.1:c.637-30A>T	XP_011543531.1:n.637-30A>T
XM_011545230.1:c.544-30A>T	XP_011543532.1:n.544-30A>T
XM_011545231.1:c.319-30A>T	XP_011543533.1:n.319-30A>T
XM_011545232.1:c.637-30A>T	XP_011543534.1:n.637-30A>T
NM_001363591.1:c.319-30A>T	NP_001350520.1:n.319-30A>T
NM_001363592.1:c.637-30A>T	NP_001350521.1:n.637-30A>T
NM_001363593.1:c.-539-30A>T	NP_001350522.1:n.-539-30A>T
NR_134580.1:n.1217-30A>T
XM_005274210.4:c.637-30A>T	XP_005274267.1:n.637-30A>T
XM_005274215.4:c.319-30A>T	XP_005274272.1:n.319-30A>T
XM_005274216.4:c.457-30A>T	XP_005274273.1:n.457-30A>T
XM_005274219.4:c.637-30A>T	XP_005274276.1:n.637-30A>T
XM_005274221.4:c.637-30A>T	XP_005274278.1:n.637-30A>T
XM_011545229.3:c.637-30A>T	XP_011543531.1:n.637-30A>T
XM_011545230.3:c.544-30A>T	XP_011543532.1:n.544-30A>T
XM_017018230.2:c.319-30A>T	XP_016873719.1:n.319-30A>T
XR_001747952.2:n.1135-30A>T
XR_001747953.2:n.1327-30A>T
XR_001747954.2:n.1327-30A>T
XR_001748245.1:n.1372T>A
XR_002957249.1:n.506-125T>A
NM_004183.4:c.637-30A>T MANE Select	NP_004174.1:n.637-30A>T
NM_001139443.2:c.457-30A>T	NP_001132915.1:n.457-30A>T
NM_001300786.2:c.457-30A>T	NP_001287715.1:n.457-30A>T
NM_001300787.2:c.457-30A>T	NP_001287716.1:n.457-30A>T
NM_001363591.2:c.319-30A>T	NP_001350520.1:n.319-30A>T
NM_001363593.2:c.-539-30A>T	NP_001350522.1:n.-539-30A>T
NR_134580.2:n.750-30A>T