Canonical Allele Identifier: CA380834616

Gene: BEST1

Linked Data

• ClinVar Variation Id: 1375458
• ClinVar RCV Id: RCV001883355
• dbSNP Id: rs1400987360
• gnomAD v4: 11-61955822-G-A
• MyVariant Identifiers: chr11:g.61723294G>A (hg19) ; chr11:g.61955822G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61955822G>A , CM000673.2:g.61955822G>A	GRCh38
NC_000011.9:g.61723294G>A , CM000673.1:g.61723294G>A	GRCh37
NC_000011.8:g.61479870G>A	NCBI36
NG_009033.1:g.10939G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.352G>A MANE Select	ENSP00000367282.4:p.Asp118Asn
ENST00000378043.8:c.352G>A	ENSP00000367282.4:p.Asp118Asn
ENST00000449131.6:c.172G>A	ENSP00000399709.2:p.Asp58Asn
ENST00000524877.5:n.784G>A
ENST00000524926.5:c.352G>A	ENSP00000432681.1:p.Asp118Asn
ENST00000526988.1:c.34G>A	ENSP00000433195.1:p.Asp12Asn
ENST00000529265.5:n.275G>A
ENST00000533521.5:n.976G>A
ENST00000534553.5:c.34G>A	ENSP00000431189.1:p.Asp12Asn
NM_001139443.1:c.172G>A	NP_001132915.1:p.Asp58Asn
NM_001300786.1:c.172G>A	NP_001287715.1:p.Asp58Asn
NM_001300787.1:c.172G>A	NP_001287716.1:p.Asp58Asn
NM_004183.3:c.352G>A	NP_004174.1:p.Asp118Asn
XM_005274210.2:c.352G>A	XP_005274267.1:p.Asp118Asn
XM_005274215.2:c.34G>A	XP_005274272.1:p.Asp12Asn
XM_005274216.2:c.172G>A	XP_005274273.1:p.Asp58Asn
XM_005274218.3:c.34G>A	XP_005274275.1:p.Asp12Asn
XM_005274219.2:c.352G>A	XP_005274276.1:p.Asp118Asn
XM_005274221.2:c.352G>A	XP_005274278.1:p.Asp118Asn
XM_011545229.1:c.352G>A	XP_011543531.1:p.Asp118Asn
XM_011545230.1:c.259G>A	XP_011543532.1:p.Asp87Asn
XM_011545231.1:c.34G>A	XP_011543533.1:p.Asp12Asn
XM_011545232.1:c.352G>A	XP_011543534.1:p.Asp118Asn
NM_001363591.1:c.34G>A	NP_001350520.1:p.Asp12Asn
NM_001363592.1:c.352G>A	NP_001350521.1:p.Asp118Asn
NM_001363593.1:c.-824G>A	NP_001350522.1:n.-824G>A
NR_134580.1:n.932G>A
XM_005274210.4:c.352G>A	XP_005274267.1:p.Asp118Asn
XM_005274215.4:c.34G>A	XP_005274272.1:p.Asp12Asn
XM_005274216.4:c.172G>A	XP_005274273.1:p.Asp58Asn
XM_005274219.4:c.352G>A	XP_005274276.1:p.Asp118Asn
XM_005274221.4:c.352G>A	XP_005274278.1:p.Asp118Asn
XM_011545229.3:c.352G>A	XP_011543531.1:p.Asp118Asn
XM_011545230.3:c.259G>A	XP_011543532.1:p.Asp87Asn
XM_017018230.2:c.34G>A	XP_016873719.1:p.Asp12Asn
XR_001747952.2:n.850G>A
XR_001747953.2:n.1042G>A
XR_001747954.2:n.1042G>A
XR_002957249.1:n.1916C>T
NM_004183.4:c.352G>A MANE Select	NP_004174.1:p.Asp118Asn
NM_001139443.2:c.172G>A	NP_001132915.1:p.Asp58Asn
NM_001300786.2:c.172G>A	NP_001287715.1:p.Asp58Asn
NM_001300787.2:c.172G>A	NP_001287716.1:p.Asp58Asn
NM_001363591.2:c.34G>A	NP_001350520.1:p.Asp12Asn
NM_001363593.2:c.-824G>A	NP_001350522.1:n.-824G>A
NR_134580.2:n.465G>A