Canonical Allele Identifier: CA380844073

Gene: BEST1

Linked Data

• MyVariant Identifiers: chr11:g.61727031T>G (hg19) ; chr11:g.61959559T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959559T>G , CM000673.2:g.61959559T>G	GRCh38
NC_000011.9:g.61727031T>G , CM000673.1:g.61727031T>G	GRCh37
NC_000011.8:g.61483607T>G	NCBI36
NG_009033.1:g.14676T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.929T>G MANE Select	ENSP00000367282.4:p.Ile310Ser
ENST00000378043.8:c.929T>G	ENSP00000367282.4:p.Ile310Ser
ENST00000449131.6:c.749T>G	ENSP00000399709.2:p.Ile250Ser
ENST00000524877.5:n.2560T>G
ENST00000524926.5:c.1132T>G	ENSP00000432681.1:p.Leu378Val
ENST00000526988.1:c.814T>G	ENSP00000433195.1:p.Leu272Val
ENST00000534553.5:c.164-2696T>G	ENSP00000431189.1:n.164-2696T>G
NM_001139443.1:c.749T>G	NP_001132915.1:p.Ile250Ser
NM_001300786.1:c.688-333T>G	NP_001287715.1:n.688-333T>G
NM_001300787.1:c.749T>G	NP_001287716.1:p.Ile250Ser
NM_004183.3:c.929T>G	NP_004174.1:p.Ile310Ser
XM_005274210.2:c.929T>G	XP_005274267.1:p.Ile310Ser
XM_005274215.2:c.611T>G	XP_005274272.1:p.Ile204Ser
XM_005274216.2:c.952T>G	XP_005274273.1:p.Leu318Val
XM_005274218.3:c.814T>G	XP_005274275.1:p.Leu272Val
XM_005274219.2:c.867+1261T>G	XP_005274276.1:n.867+1261T>G
XM_005274221.2:c.714+2095T>G	XP_005274278.1:n.714+2095T>G
XM_011545229.1:c.929T>G	XP_011543531.1:p.Ile310Ser
XM_011545230.1:c.836T>G	XP_011543532.1:p.Ile279Ser
XM_011545231.1:c.611T>G	XP_011543533.1:p.Ile204Ser
XM_011545232.1:c.1132T>G	XP_011543534.1:p.Leu378Val
XM_011545233.1:c.86T>G	XP_011543535.1:p.Ile29Ser
NM_001363591.1:c.611T>G	NP_001350520.1:p.Ile204Ser
NM_001363592.1:c.1132T>G	NP_001350521.1:p.Leu378Val
NM_001363593.1:c.-44T>G	NP_001350522.1:n.-44T>G
NR_134580.1:n.1712T>G
XM_005274210.4:c.929T>G	XP_005274267.1:p.Ile310Ser
XM_005274215.4:c.611T>G	XP_005274272.1:p.Ile204Ser
XM_005274216.4:c.952T>G	XP_005274273.1:p.Leu318Val
XM_005274219.4:c.867+1261T>G	XP_005274276.1:n.867+1261T>G
XM_005274221.4:c.714+2095T>G	XP_005274278.1:n.714+2095T>G
XM_011545229.3:c.929T>G	XP_011543531.1:p.Ile310Ser
XM_011545230.3:c.836T>G	XP_011543532.1:p.Ile279Ser
XM_011545233.3:c.86T>G	XP_011543535.1:p.Ile29Ser
XM_017018230.2:c.814T>G	XP_016873719.1:p.Leu272Val
XR_001747952.2:n.1630T>G
XR_001747953.2:n.1557+1261T>G
XR_001747954.2:n.1404+2095T>G
XR_001748245.1:n.196+173A>C
XR_002957249.1:n.196+173A>C
NM_004183.4:c.929T>G MANE Select	NP_004174.1:p.Ile310Ser
NM_001139443.2:c.749T>G	NP_001132915.1:p.Ile250Ser
NM_001300786.2:c.688-333T>G	NP_001287715.1:n.688-333T>G
NM_001300787.2:c.749T>G	NP_001287716.1:p.Ile250Ser
NM_001363591.2:c.611T>G	NP_001350520.1:p.Ile204Ser
NM_001363593.2:c.-44T>G	NP_001350522.1:n.-44T>G
NR_134580.2:n.1245T>G