Canonical Allele Identifier: CA380843835

Gene: BEST1

Linked Data

• MyVariant Identifiers: chr11:g.61727001A>G (hg19) ; chr11:g.61959529A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959529A>G , CM000673.2:g.61959529A>G	GRCh38
NC_000011.9:g.61727001A>G , CM000673.1:g.61727001A>G	GRCh37
NC_000011.8:g.61483577A>G	NCBI36
NG_009033.1:g.14646A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.899A>G MANE Select	ENSP00000367282.4:p.Glu300Gly
ENST00000378043.8:c.899A>G	ENSP00000367282.4:p.Glu300Gly
ENST00000449131.6:c.719A>G	ENSP00000399709.2:p.Glu240Gly
ENST00000524877.5:n.2530A>G
ENST00000524926.5:c.1102A>G	ENSP00000432681.1:p.Arg368Gly
ENST00000526988.1:c.784A>G	ENSP00000433195.1:p.Arg262Gly
ENST00000534553.5:c.164-2726A>G	ENSP00000431189.1:n.164-2726A>G
NM_001139443.1:c.719A>G	NP_001132915.1:p.Glu240Gly
NM_001300786.1:c.688-363A>G	NP_001287715.1:n.688-363A>G
NM_001300787.1:c.719A>G	NP_001287716.1:p.Glu240Gly
NM_004183.3:c.899A>G	NP_004174.1:p.Glu300Gly
XM_005274210.2:c.899A>G	XP_005274267.1:p.Glu300Gly
XM_005274215.2:c.581A>G	XP_005274272.1:p.Glu194Gly
XM_005274216.2:c.922A>G	XP_005274273.1:p.Arg308Gly
XM_005274218.3:c.784A>G	XP_005274275.1:p.Arg262Gly
XM_005274219.2:c.867+1231A>G	XP_005274276.1:n.867+1231A>G
XM_005274221.2:c.714+2065A>G	XP_005274278.1:n.714+2065A>G
XM_011545229.1:c.899A>G	XP_011543531.1:p.Glu300Gly
XM_011545230.1:c.806A>G	XP_011543532.1:p.Glu269Gly
XM_011545231.1:c.581A>G	XP_011543533.1:p.Glu194Gly
XM_011545232.1:c.1102A>G	XP_011543534.1:p.Arg368Gly
XM_011545233.1:c.56A>G	XP_011543535.1:p.Glu19Gly
NM_001363591.1:c.581A>G	NP_001350520.1:p.Glu194Gly
NM_001363592.1:c.1102A>G	NP_001350521.1:p.Arg368Gly
NM_001363593.1:c.-74A>G	NP_001350522.1:n.-74A>G
NR_134580.1:n.1682A>G
XM_005274210.4:c.899A>G	XP_005274267.1:p.Glu300Gly
XM_005274215.4:c.581A>G	XP_005274272.1:p.Glu194Gly
XM_005274216.4:c.922A>G	XP_005274273.1:p.Arg308Gly
XM_005274219.4:c.867+1231A>G	XP_005274276.1:n.867+1231A>G
XM_005274221.4:c.714+2065A>G	XP_005274278.1:n.714+2065A>G
XM_011545229.3:c.899A>G	XP_011543531.1:p.Glu300Gly
XM_011545230.3:c.806A>G	XP_011543532.1:p.Glu269Gly
XM_011545233.3:c.56A>G	XP_011543535.1:p.Glu19Gly
XM_017018230.2:c.784A>G	XP_016873719.1:p.Arg262Gly
XR_001747952.2:n.1600A>G
XR_001747953.2:n.1557+1231A>G
XR_001747954.2:n.1404+2065A>G
XR_001748245.1:n.196+203T>C
XR_002957249.1:n.196+203T>C
NM_004183.4:c.899A>G MANE Select	NP_004174.1:p.Glu300Gly
NM_001139443.2:c.719A>G	NP_001132915.1:p.Glu240Gly
NM_001300786.2:c.688-363A>G	NP_001287715.1:n.688-363A>G
NM_001300787.2:c.719A>G	NP_001287716.1:p.Glu240Gly
NM_001363591.2:c.581A>G	NP_001350520.1:p.Glu194Gly
NM_001363593.2:c.-74A>G	NP_001350522.1:n.-74A>G
NR_134580.2:n.1215A>G