Canonical Allele Identifier: CA6040803

Gene: BEST1

Linked Data

• dbSNP Id: rs751552815
• ExAC: 11:61724839 C / A
• gnomAD v2: 11-61724839-C-A
• gnomAD v4: 11-61957367-C-A
• MyVariant Identifiers: chr11:g.61724839C>A (hg19) ; chr11:g.61957367C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61957367C>A , CM000673.2:g.61957367C>A	GRCh38
NC_000011.9:g.61724839C>A , CM000673.1:g.61724839C>A	GRCh37
NC_000011.8:g.61481415C>A	NCBI36
NG_009033.1:g.12484C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000378043.9:c.637-20C>A MANE Select	ENSP00000367282.4:n.637-20C>A
ENST00000378043.8:c.637-20C>A	ENSP00000367282.4:n.637-20C>A
ENST00000449131.6:c.457-20C>A	ENSP00000399709.2:n.457-20C>A
ENST00000524877.5:n.1069-20C>A
ENST00000524926.5:c.637-20C>A	ENSP00000432681.1:n.637-20C>A
ENST00000526988.1:c.319-20C>A	ENSP00000433195.1:n.319-20C>A
ENST00000529265.5:n.560-20C>A
ENST00000534553.5:c.163+1416C>A	ENSP00000431189.1:n.163+1416C>A
NM_001139443.1:c.457-20C>A	NP_001132915.1:n.457-20C>A
NM_001300786.1:c.457-20C>A	NP_001287715.1:n.457-20C>A
NM_001300787.1:c.457-20C>A	NP_001287716.1:n.457-20C>A
NM_004183.3:c.637-20C>A	NP_004174.1:n.637-20C>A
XM_005274210.2:c.637-20C>A	XP_005274267.1:n.637-20C>A
XM_005274215.2:c.319-20C>A	XP_005274272.1:n.319-20C>A
XM_005274216.2:c.457-20C>A	XP_005274273.1:n.457-20C>A
XM_005274218.3:c.319-20C>A	XP_005274275.1:n.319-20C>A
XM_005274219.2:c.637-20C>A	XP_005274276.1:n.637-20C>A
XM_005274221.2:c.637-20C>A	XP_005274278.1:n.637-20C>A
XM_011545229.1:c.637-20C>A	XP_011543531.1:n.637-20C>A
XM_011545230.1:c.544-20C>A	XP_011543532.1:n.544-20C>A
XM_011545231.1:c.319-20C>A	XP_011543533.1:n.319-20C>A
XM_011545232.1:c.637-20C>A	XP_011543534.1:n.637-20C>A
NM_001363591.1:c.319-20C>A	NP_001350520.1:n.319-20C>A
NM_001363592.1:c.637-20C>A	NP_001350521.1:n.637-20C>A
NM_001363593.1:c.-539-20C>A	NP_001350522.1:n.-539-20C>A
NR_134580.1:n.1217-20C>A
XM_005274210.4:c.637-20C>A	XP_005274267.1:n.637-20C>A
XM_005274215.4:c.319-20C>A	XP_005274272.1:n.319-20C>A
XM_005274216.4:c.457-20C>A	XP_005274273.1:n.457-20C>A
XM_005274219.4:c.637-20C>A	XP_005274276.1:n.637-20C>A
XM_005274221.4:c.637-20C>A	XP_005274278.1:n.637-20C>A
XM_011545229.3:c.637-20C>A	XP_011543531.1:n.637-20C>A
XM_011545230.3:c.544-20C>A	XP_011543532.1:n.544-20C>A
XM_017018230.2:c.319-20C>A	XP_016873719.1:n.319-20C>A
XR_001747952.2:n.1135-20C>A
XR_001747953.2:n.1327-20C>A
XR_001747954.2:n.1327-20C>A
XR_001748245.1:n.1362G>T
XR_002957249.1:n.506-135G>T
NM_004183.4:c.637-20C>A MANE Select	NP_004174.1:n.637-20C>A
NM_001139443.2:c.457-20C>A	NP_001132915.1:n.457-20C>A
NM_001300786.2:c.457-20C>A	NP_001287715.1:n.457-20C>A
NM_001300787.2:c.457-20C>A	NP_001287716.1:n.457-20C>A
NM_001363591.2:c.319-20C>A	NP_001350520.1:n.319-20C>A
NM_001363593.2:c.-539-20C>A	NP_001350522.1:n.-539-20C>A
NR_134580.2:n.750-20C>A