Canonical Allele Identifier: CA227737

Gene: BEST1

Linked Data

• ClinVar Variation Id: 99687
• ClinVar RCV Id: RCV000086096
• dbSNP Id: rs281865529
• MyVariant Identifiers: chr11:g.61722599A>T (hg19) ; chr11:g.61955127A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61955127A>T , CM000673.2:g.61955127A>T	GRCh38
NC_000011.9:g.61722599A>T , CM000673.1:g.61722599A>T	GRCh37
NC_000011.8:g.61479175A>T	NCBI36
NG_009033.1:g.10244A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.173A>T MANE Select	ENSP00000367282.4:p.Gln58Leu
ENST00000378043.8:c.173A>T	ENSP00000367282.4:p.Gln58Leu
ENST00000449131.6:c.-8A>T	ENSP00000399709.2:n.-8A>T
ENST00000524877.5:n.89A>T
ENST00000524926.5:c.173A>T	ENSP00000432681.1:p.Gln58Leu
ENST00000529265.5:n.96A>T
ENST00000533521.5:n.281A>T
ENST00000534553.5:c.-191A>T	ENSP00000431189.1:n.-191A>T
NM_001139443.1:c.-8A>T	NP_001132915.1:n.-8A>T
NM_001300786.1:c.-8A>T	NP_001287715.1:n.-8A>T
NM_001300787.1:c.-8A>T	NP_001287716.1:n.-8A>T
NM_004183.3:c.173A>T	NP_004174.1:p.Gln58Leu
XM_005274210.2:c.173A>T	XP_005274267.1:p.Gln58Leu
XM_005274216.2:c.-8A>T	XP_005274273.1:n.-8A>T
XM_005274218.3:c.-191A>T	XP_005274275.1:n.-191A>T
XM_005274219.2:c.173A>T	XP_005274276.1:p.Gln58Leu
XM_005274221.2:c.173A>T	XP_005274278.1:p.Gln58Leu
XM_011545229.1:c.173A>T	XP_011543531.1:p.Gln58Leu
XM_011545230.1:c.80A>T	XP_011543532.1:p.Gln27Leu
XM_011545231.1:c.-191A>T	XP_011543533.1:n.-191A>T
XM_011545232.1:c.173A>T	XP_011543534.1:p.Gln58Leu
NM_001363591.1:c.-332A>T	NP_001350520.1:n.-332A>T
NM_001363592.1:c.173A>T	NP_001350521.1:p.Gln58Leu
NM_001363593.1:c.-1189A>T	NP_001350522.1:n.-1189A>T
NR_134580.1:n.753A>T
XM_005274210.4:c.173A>T	XP_005274267.1:p.Gln58Leu
XM_005274215.4:c.-332A>T	XP_005274272.1:n.-332A>T
XM_005274216.4:c.-8A>T	XP_005274273.1:n.-8A>T
XM_005274219.4:c.173A>T	XP_005274276.1:p.Gln58Leu
XM_005274221.4:c.173A>T	XP_005274278.1:p.Gln58Leu
XM_011545229.3:c.173A>T	XP_011543531.1:p.Gln58Leu
XM_011545230.3:c.80A>T	XP_011543532.1:p.Gln27Leu
XM_017018230.2:c.-332A>T	XP_016873719.1:n.-332A>T
XR_001747952.2:n.671A>T
XR_001747953.2:n.863A>T
XR_001747954.2:n.863A>T
XR_002957249.1:n.2611T>A
NM_004183.4:c.173A>T MANE Select	NP_004174.1:p.Gln58Leu
NM_001139443.2:c.-8A>T	NP_001132915.1:n.-8A>T
NM_001300786.2:c.-8A>T	NP_001287715.1:n.-8A>T
NM_001300787.2:c.-8A>T	NP_001287716.1:n.-8A>T
NR_134580.2:n.286A>T