Canonical Allele Identifier: CA380843880

Gene: BEST1

Linked Data

• ClinVar Variation Id: 636001
• ClinVar RCV Id: RCV000787547
• dbSNP Id: rs281865262
• MyVariant Identifiers: chr11:g.61727006G>A (hg19) ; chr11:g.61959534G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959534G>A , CM000673.2:g.61959534G>A	GRCh38
NC_000011.9:g.61727006G>A , CM000673.1:g.61727006G>A	GRCh37
NC_000011.8:g.61483582G>A	NCBI36
NG_009033.1:g.14651G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.904G>A MANE Select	ENSP00000367282.4:p.Asp302Asn
ENST00000378043.8:c.904G>A	ENSP00000367282.4:p.Asp302Asn
ENST00000449131.6:c.724G>A	ENSP00000399709.2:p.Asp242Asn
ENST00000524877.5:n.2535G>A
ENST00000524926.5:c.1107G>A	ENSP00000432681.1:p.Met369Ile
ENST00000526988.1:c.789G>A	ENSP00000433195.1:p.Met263Ile
ENST00000534553.5:c.164-2721G>A	ENSP00000431189.1:n.164-2721G>A
NM_001139443.1:c.724G>A	NP_001132915.1:p.Asp242Asn
NM_001300786.1:c.688-358G>A	NP_001287715.1:n.688-358G>A
NM_001300787.1:c.724G>A	NP_001287716.1:p.Asp242Asn
NM_004183.3:c.904G>A	NP_004174.1:p.Asp302Asn
XM_005274210.2:c.904G>A	XP_005274267.1:p.Asp302Asn
XM_005274215.2:c.586G>A	XP_005274272.1:p.Asp196Asn
XM_005274216.2:c.927G>A	XP_005274273.1:p.Met309Ile
XM_005274218.3:c.789G>A	XP_005274275.1:p.Met263Ile
XM_005274219.2:c.867+1236G>A	XP_005274276.1:n.867+1236G>A
XM_005274221.2:c.714+2070G>A	XP_005274278.1:n.714+2070G>A
XM_011545229.1:c.904G>A	XP_011543531.1:p.Asp302Asn
XM_011545230.1:c.811G>A	XP_011543532.1:p.Asp271Asn
XM_011545231.1:c.586G>A	XP_011543533.1:p.Asp196Asn
XM_011545232.1:c.1107G>A	XP_011543534.1:p.Met369Ile
XM_011545233.1:c.61G>A	XP_011543535.1:p.Asp21Asn
NM_001363591.1:c.586G>A	NP_001350520.1:p.Asp196Asn
NM_001363592.1:c.1107G>A	NP_001350521.1:p.Met369Ile
NM_001363593.1:c.-69G>A	NP_001350522.1:n.-69G>A
NR_134580.1:n.1687G>A
XM_005274210.4:c.904G>A	XP_005274267.1:p.Asp302Asn
XM_005274215.4:c.586G>A	XP_005274272.1:p.Asp196Asn
XM_005274216.4:c.927G>A	XP_005274273.1:p.Met309Ile
XM_005274219.4:c.867+1236G>A	XP_005274276.1:n.867+1236G>A
XM_005274221.4:c.714+2070G>A	XP_005274278.1:n.714+2070G>A
XM_011545229.3:c.904G>A	XP_011543531.1:p.Asp302Asn
XM_011545230.3:c.811G>A	XP_011543532.1:p.Asp271Asn
XM_011545233.3:c.61G>A	XP_011543535.1:p.Asp21Asn
XM_017018230.2:c.789G>A	XP_016873719.1:p.Met263Ile
XR_001747952.2:n.1605G>A
XR_001747953.2:n.1557+1236G>A
XR_001747954.2:n.1404+2070G>A
XR_001748245.1:n.196+198C>T
XR_002957249.1:n.196+198C>T
NM_004183.4:c.904G>A MANE Select	NP_004174.1:p.Asp302Asn
NM_001139443.2:c.724G>A	NP_001132915.1:p.Asp242Asn
NM_001300786.2:c.688-358G>A	NP_001287715.1:n.688-358G>A
NM_001300787.2:c.724G>A	NP_001287716.1:p.Asp242Asn
NM_001363591.2:c.586G>A	NP_001350520.1:p.Asp196Asn
NM_001363593.2:c.-69G>A	NP_001350522.1:n.-69G>A
NR_134580.2:n.1220G>A