Canonical Allele Identifier: CA380844091

Gene: BEST1

Linked Data

• gnomAD v4: 11-61959561-G-T
• MyVariant Identifiers: chr11:g.61727033G>T (hg19) ; chr11:g.61959561G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959561G>T , CM000673.2:g.61959561G>T	GRCh38
NC_000011.9:g.61727033G>T , CM000673.1:g.61727033G>T	GRCh37
NC_000011.8:g.61483609G>T	NCBI36
NG_009033.1:g.14678G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.931G>T MANE Select	ENSP00000367282.4:p.Val311Phe
ENST00000378043.8:c.931G>T	ENSP00000367282.4:p.Val311Phe
ENST00000449131.6:c.751G>T	ENSP00000399709.2:p.Val251Phe
ENST00000524877.5:n.2562G>T
ENST00000524926.5:c.1134G>T	ENSP00000432681.1:p.Leu378Phe
ENST00000526988.1:c.816G>T	ENSP00000433195.1:p.Leu272Phe
ENST00000534553.5:c.164-2694G>T	ENSP00000431189.1:n.164-2694G>T
NM_001139443.1:c.751G>T	NP_001132915.1:p.Val251Phe
NM_001300786.1:c.688-331G>T	NP_001287715.1:n.688-331G>T
NM_001300787.1:c.751G>T	NP_001287716.1:p.Val251Phe
NM_004183.3:c.931G>T	NP_004174.1:p.Val311Phe
XM_005274210.2:c.931G>T	XP_005274267.1:p.Val311Phe
XM_005274215.2:c.613G>T	XP_005274272.1:p.Val205Phe
XM_005274216.2:c.954G>T	XP_005274273.1:p.Leu318Phe
XM_005274218.3:c.816G>T	XP_005274275.1:p.Leu272Phe
XM_005274219.2:c.867+1263G>T	XP_005274276.1:n.867+1263G>T
XM_005274221.2:c.714+2097G>T	XP_005274278.1:n.714+2097G>T
XM_011545229.1:c.931G>T	XP_011543531.1:p.Val311Phe
XM_011545230.1:c.838G>T	XP_011543532.1:p.Val280Phe
XM_011545231.1:c.613G>T	XP_011543533.1:p.Val205Phe
XM_011545232.1:c.1134G>T	XP_011543534.1:p.Leu378Phe
XM_011545233.1:c.88G>T	XP_011543535.1:p.Val30Phe
NM_001363591.1:c.613G>T	NP_001350520.1:p.Val205Phe
NM_001363592.1:c.1134G>T	NP_001350521.1:p.Leu378Phe
NM_001363593.1:c.-42G>T	NP_001350522.1:n.-42G>T
NR_134580.1:n.1714G>T
XM_005274210.4:c.931G>T	XP_005274267.1:p.Val311Phe
XM_005274215.4:c.613G>T	XP_005274272.1:p.Val205Phe
XM_005274216.4:c.954G>T	XP_005274273.1:p.Leu318Phe
XM_005274219.4:c.867+1263G>T	XP_005274276.1:n.867+1263G>T
XM_005274221.4:c.714+2097G>T	XP_005274278.1:n.714+2097G>T
XM_011545229.3:c.931G>T	XP_011543531.1:p.Val311Phe
XM_011545230.3:c.838G>T	XP_011543532.1:p.Val280Phe
XM_011545233.3:c.88G>T	XP_011543535.1:p.Val30Phe
XM_017018230.2:c.816G>T	XP_016873719.1:p.Leu272Phe
XR_001747952.2:n.1632G>T
XR_001747953.2:n.1557+1263G>T
XR_001747954.2:n.1404+2097G>T
XR_001748245.1:n.196+171C>A
XR_002957249.1:n.196+171C>A
NM_004183.4:c.931G>T MANE Select	NP_004174.1:p.Val311Phe
NM_001139443.2:c.751G>T	NP_001132915.1:p.Val251Phe
NM_001300786.2:c.688-331G>T	NP_001287715.1:n.688-331G>T
NM_001300787.2:c.751G>T	NP_001287716.1:p.Val251Phe
NM_001363591.2:c.613G>T	NP_001350520.1:p.Val205Phe
NM_001363593.2:c.-42G>T	NP_001350522.1:n.-42G>T
NR_134580.2:n.1247G>T