Canonical Allele Identifier: CA380843707

Gene: BEST1

Linked Data

• MyVariant Identifiers: chr11:g.61726984C>G (hg19) ; chr11:g.61959512C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959512C>G , CM000673.2:g.61959512C>G	GRCh38
NC_000011.9:g.61726984C>G , CM000673.1:g.61726984C>G	GRCh37
NC_000011.8:g.61483560C>G	NCBI36
NG_009033.1:g.14629C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000378043.9:c.882C>G MANE Select	ENSP00000367282.4:p.Leu294=
ENST00000378043.8:c.882C>G	ENSP00000367282.4:p.Leu294=
ENST00000449131.6:c.702C>G	ENSP00000399709.2:p.Leu234=
ENST00000524877.5:n.2513C>G
ENST00000524926.5:c.1085C>G	ENSP00000432681.1:p.Ser362Ter
ENST00000526988.1:c.767C>G	ENSP00000433195.1:p.Ser256Ter
ENST00000534553.5:c.164-2743C>G	ENSP00000431189.1:n.164-2743C>G
NM_001139443.1:c.702C>G	NP_001132915.1:p.Leu234=
NM_001300786.1:c.688-380C>G	NP_001287715.1:n.688-380C>G
NM_001300787.1:c.702C>G	NP_001287716.1:p.Leu234=
NM_004183.3:c.882C>G	NP_004174.1:p.Leu294=
XM_005274210.2:c.882C>G	XP_005274267.1:p.Leu294=
XM_005274215.2:c.564C>G	XP_005274272.1:p.Leu188=
XM_005274216.2:c.905C>G	XP_005274273.1:p.Ser302Ter
XM_005274218.3:c.767C>G	XP_005274275.1:p.Ser256Ter
XM_005274219.2:c.867+1214C>G	XP_005274276.1:n.867+1214C>G
XM_005274221.2:c.714+2048C>G	XP_005274278.1:n.714+2048C>G
XM_011545229.1:c.882C>G	XP_011543531.1:p.Leu294=
XM_011545230.1:c.789C>G	XP_011543532.1:p.Leu263=
XM_011545231.1:c.564C>G	XP_011543533.1:p.Leu188=
XM_011545232.1:c.1085C>G	XP_011543534.1:p.Ser362Ter
XM_011545233.1:c.39C>G	XP_011543535.1:p.Leu13=
NM_001363591.1:c.564C>G	NP_001350520.1:p.Leu188=
NM_001363592.1:c.1085C>G	NP_001350521.1:p.Ser362Ter
NM_001363593.1:c.-91C>G	NP_001350522.1:n.-91C>G
NR_134580.1:n.1665C>G
XM_005274210.4:c.882C>G	XP_005274267.1:p.Leu294=
XM_005274215.4:c.564C>G	XP_005274272.1:p.Leu188=
XM_005274216.4:c.905C>G	XP_005274273.1:p.Ser302Ter
XM_005274219.4:c.867+1214C>G	XP_005274276.1:n.867+1214C>G
XM_005274221.4:c.714+2048C>G	XP_005274278.1:n.714+2048C>G
XM_011545229.3:c.882C>G	XP_011543531.1:p.Leu294=
XM_011545230.3:c.789C>G	XP_011543532.1:p.Leu263=
XM_011545233.3:c.39C>G	XP_011543535.1:p.Leu13=
XM_017018230.2:c.767C>G	XP_016873719.1:p.Ser256Ter
XR_001747952.2:n.1583C>G
XR_001747953.2:n.1557+1214C>G
XR_001747954.2:n.1404+2048C>G
XR_001748245.1:n.196+220G>C
XR_002957249.1:n.196+220G>C
NM_004183.4:c.882C>G MANE Select	NP_004174.1:p.Leu294=
NM_001139443.2:c.702C>G	NP_001132915.1:p.Leu234=
NM_001300786.2:c.688-380C>G	NP_001287715.1:n.688-380C>G
NM_001300787.2:c.702C>G	NP_001287716.1:p.Leu234=
NM_001363591.2:c.564C>G	NP_001350520.1:p.Leu188=
NM_001363593.2:c.-91C>G	NP_001350522.1:n.-91C>G
NR_134580.2:n.1198C>G