Canonical Allele Identifier: CA380843968

Gene: BEST1

Linked Data

• ClinVar Variation Id: 1482656
• ClinVar RCV Id: RCV001995736
• dbSNP Id: rs2134453498
• MyVariant Identifiers: chr11:g.61727018G>C (hg19) ; chr11:g.61959546G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959546G>C , CM000673.2:g.61959546G>C	GRCh38
NC_000011.9:g.61727018G>C , CM000673.1:g.61727018G>C	GRCh37
NC_000011.8:g.61483594G>C	NCBI36
NG_009033.1:g.14663G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.916G>C MANE Select	ENSP00000367282.4:p.Glu306Gln
ENST00000378043.8:c.916G>C	ENSP00000367282.4:p.Glu306Gln
ENST00000449131.6:c.736G>C	ENSP00000399709.2:p.Glu246Gln
ENST00000524877.5:n.2547G>C
ENST00000524926.5:c.1119G>C	ENSP00000432681.1:p.Leu373Phe
ENST00000526988.1:c.801G>C	ENSP00000433195.1:p.Leu267Phe
ENST00000534553.5:c.164-2709G>C	ENSP00000431189.1:n.164-2709G>C
NM_001139443.1:c.736G>C	NP_001132915.1:p.Glu246Gln
NM_001300786.1:c.688-346G>C	NP_001287715.1:n.688-346G>C
NM_001300787.1:c.736G>C	NP_001287716.1:p.Glu246Gln
NM_004183.3:c.916G>C	NP_004174.1:p.Glu306Gln
XM_005274210.2:c.916G>C	XP_005274267.1:p.Glu306Gln
XM_005274215.2:c.598G>C	XP_005274272.1:p.Glu200Gln
XM_005274216.2:c.939G>C	XP_005274273.1:p.Leu313Phe
XM_005274218.3:c.801G>C	XP_005274275.1:p.Leu267Phe
XM_005274219.2:c.867+1248G>C	XP_005274276.1:n.867+1248G>C
XM_005274221.2:c.714+2082G>C	XP_005274278.1:n.714+2082G>C
XM_011545229.1:c.916G>C	XP_011543531.1:p.Glu306Gln
XM_011545230.1:c.823G>C	XP_011543532.1:p.Glu275Gln
XM_011545231.1:c.598G>C	XP_011543533.1:p.Glu200Gln
XM_011545232.1:c.1119G>C	XP_011543534.1:p.Leu373Phe
XM_011545233.1:c.73G>C	XP_011543535.1:p.Glu25Gln
NM_001363591.1:c.598G>C	NP_001350520.1:p.Glu200Gln
NM_001363592.1:c.1119G>C	NP_001350521.1:p.Leu373Phe
NM_001363593.1:c.-57G>C	NP_001350522.1:n.-57G>C
NR_134580.1:n.1699G>C
XM_005274210.4:c.916G>C	XP_005274267.1:p.Glu306Gln
XM_005274215.4:c.598G>C	XP_005274272.1:p.Glu200Gln
XM_005274216.4:c.939G>C	XP_005274273.1:p.Leu313Phe
XM_005274219.4:c.867+1248G>C	XP_005274276.1:n.867+1248G>C
XM_005274221.4:c.714+2082G>C	XP_005274278.1:n.714+2082G>C
XM_011545229.3:c.916G>C	XP_011543531.1:p.Glu306Gln
XM_011545230.3:c.823G>C	XP_011543532.1:p.Glu275Gln
XM_011545233.3:c.73G>C	XP_011543535.1:p.Glu25Gln
XM_017018230.2:c.801G>C	XP_016873719.1:p.Leu267Phe
XR_001747952.2:n.1617G>C
XR_001747953.2:n.1557+1248G>C
XR_001747954.2:n.1404+2082G>C
XR_001748245.1:n.196+186C>G
XR_002957249.1:n.196+186C>G
NM_004183.4:c.916G>C MANE Select	NP_004174.1:p.Glu306Gln
NM_001139443.2:c.736G>C	NP_001132915.1:p.Glu246Gln
NM_001300786.2:c.688-346G>C	NP_001287715.1:n.688-346G>C
NM_001300787.2:c.736G>C	NP_001287716.1:p.Glu246Gln
NM_001363591.2:c.598G>C	NP_001350520.1:p.Glu200Gln
NM_001363593.2:c.-57G>C	NP_001350522.1:n.-57G>C
NR_134580.2:n.1232G>C