Canonical Allele Identifier: CA380840464

Gene: BEST1

Linked Data

• gnomAD v4: 11-61958303-G-A
• MyVariant Identifiers: chr11:g.61725775G>A (hg19) ; chr11:g.61958303G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61958303G>A , CM000673.2:g.61958303G>A	GRCh38
NC_000011.9:g.61725775G>A , CM000673.1:g.61725775G>A	GRCh37
NC_000011.8:g.61482351G>A	NCBI36
NG_009033.1:g.13420G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.867+5G>A MANE Select	ENSP00000367282.4:n.867+5G>A
ENST00000378043.8:c.867+5G>A	ENSP00000367282.4:n.867+5G>A
ENST00000449131.6:c.687+5G>A	ENSP00000399709.2:n.687+5G>A
ENST00000524877.5:n.1304G>A
ENST00000524926.5:c.872G>A	ENSP00000432681.1:p.Gly291Asp
ENST00000526988.1:c.554G>A	ENSP00000433195.1:p.Gly185Asp
ENST00000529265.5:n.795G>A
ENST00000534553.5:c.163+2352G>A	ENSP00000431189.1:n.163+2352G>A
NM_001139443.1:c.687+5G>A	NP_001132915.1:n.687+5G>A
NM_001300786.1:c.687+5G>A	NP_001287715.1:n.687+5G>A
NM_001300787.1:c.687+5G>A	NP_001287716.1:n.687+5G>A
NM_004183.3:c.867+5G>A	NP_004174.1:n.867+5G>A
XM_005274210.2:c.867+5G>A	XP_005274267.1:n.867+5G>A
XM_005274215.2:c.549+5G>A	XP_005274272.1:n.549+5G>A
XM_005274216.2:c.692G>A	XP_005274273.1:p.Gly231Asp
XM_005274218.3:c.554G>A	XP_005274275.1:p.Gly185Asp
XM_005274219.2:c.867+5G>A	XP_005274276.1:n.867+5G>A
XM_005274221.2:c.714+839G>A	XP_005274278.1:n.714+839G>A
XM_011545229.1:c.867+5G>A	XP_011543531.1:n.867+5G>A
XM_011545230.1:c.774+5G>A	XP_011543532.1:n.774+5G>A
XM_011545231.1:c.549+5G>A	XP_011543533.1:n.549+5G>A
XM_011545232.1:c.872G>A	XP_011543534.1:p.Gly291Asp
NM_001363591.1:c.549+5G>A	NP_001350520.1:n.549+5G>A
NM_001363592.1:c.872G>A	NP_001350521.1:p.Gly291Asp
NM_001363593.1:c.-304G>A	NP_001350522.1:n.-304G>A
NR_134580.1:n.1452G>A
XM_005274210.4:c.867+5G>A	XP_005274267.1:n.867+5G>A
XM_005274215.4:c.549+5G>A	XP_005274272.1:n.549+5G>A
XM_005274216.4:c.692G>A	XP_005274273.1:p.Gly231Asp
XM_005274219.4:c.867+5G>A	XP_005274276.1:n.867+5G>A
XM_005274221.4:c.714+839G>A	XP_005274278.1:n.714+839G>A
XM_011545229.3:c.867+5G>A	XP_011543531.1:n.867+5G>A
XM_011545230.3:c.774+5G>A	XP_011543532.1:n.774+5G>A
XM_017018230.2:c.554G>A	XP_016873719.1:p.Gly185Asp
XR_001747952.2:n.1370G>A
XR_001747953.2:n.1557+5G>A
XR_001747954.2:n.1404+839G>A
XR_001748245.1:n.426C>T
XR_002957249.1:n.426C>T
NM_004183.4:c.867+5G>A MANE Select	NP_004174.1:n.867+5G>A
NM_001139443.2:c.687+5G>A	NP_001132915.1:n.687+5G>A
NM_001300786.2:c.687+5G>A	NP_001287715.1:n.687+5G>A
NM_001300787.2:c.687+5G>A	NP_001287716.1:n.687+5G>A
NM_001363591.2:c.549+5G>A	NP_001350520.1:n.549+5G>A
NM_001363593.2:c.-304G>A	NP_001350522.1:n.-304G>A
NR_134580.2:n.985G>A