Canonical Allele Identifier: CA938621875

Gene: BEST1

Linked Data

• dbSNP Id: rs1941827218
• gnomAD v3: 11-61959605-C-A
• gnomAD v4: 11-61959605-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959605C>A , CM000673.2:g.61959605C>A	GRCh38
NC_000011.9:g.61727077C>A , CM000673.1:g.61727077C>A	GRCh37
NC_000011.8:g.61483653C>A	NCBI36
NG_009033.1:g.14722C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.948+27C>A MANE Select	ENSP00000367282.4:n.948+27C>A
ENST00000378043.8:c.948+27C>A	ENSP00000367282.4:n.948+27C>A
ENST00000449131.6:c.768+27C>A	ENSP00000399709.2:n.768+27C>A
ENST00000524877.5:n.2579+27C>A
ENST00000524926.5:c.1151+27C>A	ENSP00000432681.1:n.1151+27C>A
ENST00000526988.1:c.833+27C>A	ENSP00000433195.1:n.833+27C>A
ENST00000534553.5:c.164-2650C>A	ENSP00000431189.1:n.164-2650C>A
NM_001139443.1:c.768+27C>A	NP_001132915.1:n.768+27C>A
NM_001300786.1:c.688-287C>A	NP_001287715.1:n.688-287C>A
NM_001300787.1:c.768+27C>A	NP_001287716.1:n.768+27C>A
NM_004183.3:c.948+27C>A	NP_004174.1:n.948+27C>A
XM_005274210.2:c.948+27C>A	XP_005274267.1:n.948+27C>A
XM_005274215.2:c.630+27C>A	XP_005274272.1:n.630+27C>A
XM_005274216.2:c.971+27C>A	XP_005274273.1:n.971+27C>A
XM_005274218.3:c.833+27C>A	XP_005274275.1:n.833+27C>A
XM_005274219.2:c.867+1307C>A	XP_005274276.1:n.867+1307C>A
XM_005274221.2:c.714+2141C>A	XP_005274278.1:n.714+2141C>A
XM_011545229.1:c.948+27C>A	XP_011543531.1:n.948+27C>A
XM_011545230.1:c.855+27C>A	XP_011543532.1:n.855+27C>A
XM_011545231.1:c.630+27C>A	XP_011543533.1:n.630+27C>A
XM_011545232.1:c.1151+27C>A	XP_011543534.1:n.1151+27C>A
XM_011545233.1:c.105+27C>A	XP_011543535.1:n.105+27C>A
NM_001363591.1:c.630+27C>A	NP_001350520.1:n.630+27C>A
NM_001363592.1:c.1151+27C>A	NP_001350521.1:n.1151+27C>A
NM_001363593.1:c.-25+27C>A	NP_001350522.1:n.-25+27C>A
NR_134580.1:n.1731+27C>A
XM_005274210.4:c.948+27C>A	XP_005274267.1:n.948+27C>A
XM_005274215.4:c.630+27C>A	XP_005274272.1:n.630+27C>A
XM_005274216.4:c.971+27C>A	XP_005274273.1:n.971+27C>A
XM_005274219.4:c.867+1307C>A	XP_005274276.1:n.867+1307C>A
XM_005274221.4:c.714+2141C>A	XP_005274278.1:n.714+2141C>A
XM_011545229.3:c.948+27C>A	XP_011543531.1:n.948+27C>A
XM_011545230.3:c.855+27C>A	XP_011543532.1:n.855+27C>A
XM_011545233.3:c.105+27C>A	XP_011543535.1:n.105+27C>A
XM_017018230.2:c.833+27C>A	XP_016873719.1:n.833+27C>A
XR_001747952.2:n.1649+27C>A
XR_001747953.2:n.1557+1307C>A
XR_001747954.2:n.1404+2141C>A
XR_001748245.1:n.196+127G>T
XR_002957249.1:n.196+127G>T
NM_004183.4:c.948+27C>A MANE Select	NP_004174.1:n.948+27C>A
NM_001139443.2:c.768+27C>A	NP_001132915.1:n.768+27C>A
NM_001300786.2:c.688-287C>A	NP_001287715.1:n.688-287C>A
NM_001300787.2:c.768+27C>A	NP_001287716.1:n.768+27C>A
NM_001363591.2:c.630+27C>A	NP_001350520.1:n.630+27C>A
NM_001363593.2:c.-25+27C>A	NP_001350522.1:n.-25+27C>A
NR_134580.2:n.1264+27C>A