Canonical Allele Identifier: CA380843995

Gene: BEST1

Linked Data

• ClinVar Variation Id: 2137121
• ClinVar RCV Id: RCV003062392
• MyVariant Identifiers: chr11:g.61727022C>A (hg19) ; chr11:g.61959550C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959550C>A , CM000673.2:g.61959550C>A	GRCh38
NC_000011.9:g.61727022C>A , CM000673.1:g.61727022C>A	GRCh37
NC_000011.8:g.61483598C>A	NCBI36
NG_009033.1:g.14667C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.920C>A MANE Select	ENSP00000367282.4:p.Thr307Asn
ENST00000378043.8:c.920C>A	ENSP00000367282.4:p.Thr307Asn
ENST00000449131.6:c.740C>A	ENSP00000399709.2:p.Thr247Asn
ENST00000524877.5:n.2551C>A
ENST00000524926.5:c.1123C>A	ENSP00000432681.1:p.Pro375Thr
ENST00000526988.1:c.805C>A	ENSP00000433195.1:p.Pro269Thr
ENST00000534553.5:c.164-2705C>A	ENSP00000431189.1:n.164-2705C>A
NM_001139443.1:c.740C>A	NP_001132915.1:p.Thr247Asn
NM_001300786.1:c.688-342C>A	NP_001287715.1:n.688-342C>A
NM_001300787.1:c.740C>A	NP_001287716.1:p.Thr247Asn
NM_004183.3:c.920C>A	NP_004174.1:p.Thr307Asn
XM_005274210.2:c.920C>A	XP_005274267.1:p.Thr307Asn
XM_005274215.2:c.602C>A	XP_005274272.1:p.Thr201Asn
XM_005274216.2:c.943C>A	XP_005274273.1:p.Pro315Thr
XM_005274218.3:c.805C>A	XP_005274275.1:p.Pro269Thr
XM_005274219.2:c.867+1252C>A	XP_005274276.1:n.867+1252C>A
XM_005274221.2:c.714+2086C>A	XP_005274278.1:n.714+2086C>A
XM_011545229.1:c.920C>A	XP_011543531.1:p.Thr307Asn
XM_011545230.1:c.827C>A	XP_011543532.1:p.Thr276Asn
XM_011545231.1:c.602C>A	XP_011543533.1:p.Thr201Asn
XM_011545232.1:c.1123C>A	XP_011543534.1:p.Pro375Thr
XM_011545233.1:c.77C>A	XP_011543535.1:p.Thr26Asn
NM_001363591.1:c.602C>A	NP_001350520.1:p.Thr201Asn
NM_001363592.1:c.1123C>A	NP_001350521.1:p.Pro375Thr
NM_001363593.1:c.-53C>A	NP_001350522.1:n.-53C>A
NR_134580.1:n.1703C>A
XM_005274210.4:c.920C>A	XP_005274267.1:p.Thr307Asn
XM_005274215.4:c.602C>A	XP_005274272.1:p.Thr201Asn
XM_005274216.4:c.943C>A	XP_005274273.1:p.Pro315Thr
XM_005274219.4:c.867+1252C>A	XP_005274276.1:n.867+1252C>A
XM_005274221.4:c.714+2086C>A	XP_005274278.1:n.714+2086C>A
XM_011545229.3:c.920C>A	XP_011543531.1:p.Thr307Asn
XM_011545230.3:c.827C>A	XP_011543532.1:p.Thr276Asn
XM_011545233.3:c.77C>A	XP_011543535.1:p.Thr26Asn
XM_017018230.2:c.805C>A	XP_016873719.1:p.Pro269Thr
XR_001747952.2:n.1621C>A
XR_001747953.2:n.1557+1252C>A
XR_001747954.2:n.1404+2086C>A
XR_001748245.1:n.196+182G>T
XR_002957249.1:n.196+182G>T
NM_004183.4:c.920C>A MANE Select	NP_004174.1:p.Thr307Asn
NM_001139443.2:c.740C>A	NP_001132915.1:p.Thr247Asn
NM_001300786.2:c.688-342C>A	NP_001287715.1:n.688-342C>A
NM_001300787.2:c.740C>A	NP_001287716.1:p.Thr247Asn
NM_001363591.2:c.602C>A	NP_001350520.1:p.Thr201Asn
NM_001363593.2:c.-53C>A	NP_001350522.1:n.-53C>A
NR_134580.2:n.1236C>A