Canonical Allele Identifier: CA227759

Gene: BEST1

Linked Data

• ClinVar Variation Id: 99706
• ClinVar RCV Id: RCV000086118 ; RCV001073998
• dbSNP Id: rs281865206
• gnomAD v4: 11-61951834-G-A
• MyVariant Identifiers: chr11:g.61719306G>A (hg19) ; chr11:g.61951834G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61951834G>A , CM000673.2:g.61951834G>A	GRCh38
NC_000011.9:g.61719306G>A , CM000673.1:g.61719306G>A	GRCh37
NC_000011.8:g.61475882G>A	NCBI36
NG_009033.1:g.6951G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.28G>A MANE Select	ENSP00000367282.4:p.Ala10Thr
ENST00000378043.8:c.28G>A	ENSP00000367282.4:p.Ala10Thr
ENST00000449131.6:c.-29+1407G>A	ENSP00000399709.2:n.-29+1407G>A
ENST00000524877.5:n.68+1407G>A
ENST00000524926.5:c.28G>A	ENSP00000432681.1:p.Ala10Thr
ENST00000529265.5:n.75+1407G>A
ENST00000533521.5:n.136G>A
ENST00000534553.5:c.-212+1407G>A	ENSP00000431189.1:n.-212+1407G>A
NM_001139443.1:c.-29+1407G>A	NP_001132915.1:n.-29+1407G>A
NM_001300786.1:c.-29+1407G>A	NP_001287715.1:n.-29+1407G>A
NM_001300787.1:c.-29+1407G>A	NP_001287716.1:n.-29+1407G>A
NM_004183.3:c.28G>A	NP_004174.1:p.Ala10Thr
XM_005274210.2:c.28G>A	XP_005274267.1:p.Ala10Thr
XM_005274216.2:c.-29+1407G>A	XP_005274273.1:n.-29+1407G>A
XM_005274218.3:c.-212+1407G>A	XP_005274275.1:n.-212+1407G>A
XM_005274219.2:c.28G>A	XP_005274276.1:p.Ala10Thr
XM_005274221.2:c.28G>A	XP_005274278.1:p.Ala10Thr
XM_011545229.1:c.28G>A	XP_011543531.1:p.Ala10Thr
XM_011545230.1:c.60-3273G>A	XP_011543532.1:n.60-3273G>A
XM_011545231.1:c.-212+1407G>A	XP_011543533.1:n.-212+1407G>A
XM_011545232.1:c.28G>A	XP_011543534.1:p.Ala10Thr
NM_001363592.1:c.28G>A	NP_001350521.1:p.Ala10Thr
NR_134580.1:n.608G>A
XM_005274210.4:c.28G>A	XP_005274267.1:p.Ala10Thr
XM_005274216.4:c.-29+1407G>A	XP_005274273.1:n.-29+1407G>A
XM_005274219.4:c.28G>A	XP_005274276.1:p.Ala10Thr
XM_005274221.4:c.28G>A	XP_005274278.1:p.Ala10Thr
XM_011545229.3:c.28G>A	XP_011543531.1:p.Ala10Thr
XM_011545230.3:c.60-3273G>A	XP_011543532.1:n.60-3273G>A
XR_001747952.2:n.650+1407G>A
XR_001747953.2:n.718G>A
XR_001747954.2:n.718G>A
NM_004183.4:c.28G>A MANE Select	NP_004174.1:p.Ala10Thr
NM_001139443.2:c.-29+1407G>A	NP_001132915.1:n.-29+1407G>A
NM_001300786.2:c.-29+1407G>A	NP_001287715.1:n.-29+1407G>A
NM_001300787.2:c.-29+1407G>A	NP_001287716.1:n.-29+1407G>A
NR_134580.2:n.141G>A