Canonical Allele Identifier: CA380844250

Gene: BEST1

Linked Data

• dbSNP Id: rs1941823279
• MyVariant Identifiers: chr11:g.61727048C>T (hg19) ; chr11:g.61959576C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959576C>T , CM000673.2:g.61959576C>T	GRCh38
NC_000011.9:g.61727048C>T , CM000673.1:g.61727048C>T	GRCh37
NC_000011.8:g.61483624C>T	NCBI36
NG_009033.1:g.14693C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.946C>T MANE Select	ENSP00000367282.4:p.Gln316Ter
ENST00000378043.8:c.946C>T	ENSP00000367282.4:p.Gln316Ter
ENST00000449131.6:c.766C>T	ENSP00000399709.2:p.Gln256Ter
ENST00000524877.5:n.2577C>T
ENST00000524926.5:c.1149C>T	ENSP00000432681.1:p.Cys383=
ENST00000526988.1:c.831C>T	ENSP00000433195.1:p.Cys277=
ENST00000534553.5:c.164-2679C>T	ENSP00000431189.1:n.164-2679C>T
NM_001139443.1:c.766C>T	NP_001132915.1:p.Gln256Ter
NM_001300786.1:c.688-316C>T	NP_001287715.1:n.688-316C>T
NM_001300787.1:c.766C>T	NP_001287716.1:p.Gln256Ter
NM_004183.3:c.946C>T	NP_004174.1:p.Gln316Ter
XM_005274210.2:c.946C>T	XP_005274267.1:p.Gln316Ter
XM_005274215.2:c.628C>T	XP_005274272.1:p.Gln210Ter
XM_005274216.2:c.969C>T	XP_005274273.1:p.Cys323=
XM_005274218.3:c.831C>T	XP_005274275.1:p.Cys277=
XM_005274219.2:c.867+1278C>T	XP_005274276.1:n.867+1278C>T
XM_005274221.2:c.714+2112C>T	XP_005274278.1:n.714+2112C>T
XM_011545229.1:c.946C>T	XP_011543531.1:p.Gln316Ter
XM_011545230.1:c.853C>T	XP_011543532.1:p.Gln285Ter
XM_011545231.1:c.628C>T	XP_011543533.1:p.Gln210Ter
XM_011545232.1:c.1149C>T	XP_011543534.1:p.Cys383=
XM_011545233.1:c.103C>T	XP_011543535.1:p.Gln35Ter
NM_001363591.1:c.628C>T	NP_001350520.1:p.Gln210Ter
NM_001363592.1:c.1149C>T	NP_001350521.1:p.Cys383=
NM_001363593.1:c.-27C>T	NP_001350522.1:n.-27C>T
NR_134580.1:n.1729C>T
XM_005274210.4:c.946C>T	XP_005274267.1:p.Gln316Ter
XM_005274215.4:c.628C>T	XP_005274272.1:p.Gln210Ter
XM_005274216.4:c.969C>T	XP_005274273.1:p.Cys323=
XM_005274219.4:c.867+1278C>T	XP_005274276.1:n.867+1278C>T
XM_005274221.4:c.714+2112C>T	XP_005274278.1:n.714+2112C>T
XM_011545229.3:c.946C>T	XP_011543531.1:p.Gln316Ter
XM_011545230.3:c.853C>T	XP_011543532.1:p.Gln285Ter
XM_011545233.3:c.103C>T	XP_011543535.1:p.Gln35Ter
XM_017018230.2:c.831C>T	XP_016873719.1:p.Cys277=
XR_001747952.2:n.1647C>T
XR_001747953.2:n.1557+1278C>T
XR_001747954.2:n.1404+2112C>T
XR_001748245.1:n.196+156G>A
XR_002957249.1:n.196+156G>A
NM_004183.4:c.946C>T MANE Select	NP_004174.1:p.Gln316Ter
NM_001139443.2:c.766C>T	NP_001132915.1:p.Gln256Ter
NM_001300786.2:c.688-316C>T	NP_001287715.1:n.688-316C>T
NM_001300787.2:c.766C>T	NP_001287716.1:p.Gln256Ter
NM_001363591.2:c.628C>T	NP_001350520.1:p.Gln210Ter
NM_001363593.2:c.-27C>T	NP_001350522.1:n.-27C>T
NR_134580.2:n.1262C>T