Canonical Allele Identifier: CA380838733

Gene: BEST1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61957432G>C , CM000673.2:g.61957432G>C	GRCh38
NC_000011.9:g.61724904G>C , CM000673.1:g.61724904G>C	GRCh37
NC_000011.8:g.61481480G>C	NCBI36
NG_009033.1:g.12549G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.682G>C MANE Select	ENSP00000367282.4:p.Asp228His
ENST00000378043.8:c.682G>C	ENSP00000367282.4:p.Asp228His
ENST00000449131.6:c.502G>C	ENSP00000399709.2:p.Asp168His
ENST00000524877.5:n.1114G>C
ENST00000524926.5:c.682G>C	ENSP00000432681.1:p.Asp228His
ENST00000526988.1:c.364G>C	ENSP00000433195.1:p.Asp122His
ENST00000529265.5:n.605G>C
ENST00000534553.5:c.163+1481G>C	ENSP00000431189.1:n.163+1481G>C
NM_001139443.1:c.502G>C	NP_001132915.1:p.Asp168His
NM_001300786.1:c.502G>C	NP_001287715.1:p.Asp168His
NM_001300787.1:c.502G>C	NP_001287716.1:p.Asp168His
NM_004183.3:c.682G>C	NP_004174.1:p.Asp228His
XM_005274210.2:c.682G>C	XP_005274267.1:p.Asp228His
XM_005274215.2:c.364G>C	XP_005274272.1:p.Asp122His
XM_005274216.2:c.502G>C	XP_005274273.1:p.Asp168His
XM_005274218.3:c.364G>C	XP_005274275.1:p.Asp122His
XM_005274219.2:c.682G>C	XP_005274276.1:p.Asp228His
XM_005274221.2:c.682G>C	XP_005274278.1:p.Asp228His
XM_011545229.1:c.682G>C	XP_011543531.1:p.Asp228His
XM_011545230.1:c.589G>C	XP_011543532.1:p.Asp197His
XM_011545231.1:c.364G>C	XP_011543533.1:p.Asp122His
XM_011545232.1:c.682G>C	XP_011543534.1:p.Asp228His
NM_001363591.1:c.364G>C	NP_001350520.1:p.Asp122His
NM_001363592.1:c.682G>C	NP_001350521.1:p.Asp228His
NM_001363593.1:c.-494G>C	NP_001350522.1:n.-494G>C
NR_134580.1:n.1262G>C
XM_005274210.4:c.682G>C	XP_005274267.1:p.Asp228His
XM_005274215.4:c.364G>C	XP_005274272.1:p.Asp122His
XM_005274216.4:c.502G>C	XP_005274273.1:p.Asp168His
XM_005274219.4:c.682G>C	XP_005274276.1:p.Asp228His
XM_005274221.4:c.682G>C	XP_005274278.1:p.Asp228His
XM_011545229.3:c.682G>C	XP_011543531.1:p.Asp228His
XM_011545230.3:c.589G>C	XP_011543532.1:p.Asp197His
XM_017018230.2:c.364G>C	XP_016873719.1:p.Asp122His
XR_001747952.2:n.1180G>C
XR_001747953.2:n.1372G>C
XR_001747954.2:n.1372G>C
XR_001748245.1:n.1297C>G
XR_002957249.1:n.506-200C>G
NM_004183.4:c.682G>C MANE Select	NP_004174.1:p.Asp228His
NM_001139443.2:c.502G>C	NP_001132915.1:p.Asp168His
NM_001300786.2:c.502G>C	NP_001287715.1:p.Asp168His
NM_001300787.2:c.502G>C	NP_001287716.1:p.Asp168His
NM_001363591.2:c.364G>C	NP_001350520.1:p.Asp122His
NM_001363593.2:c.-494G>C	NP_001350522.1:n.-494G>C
NR_134580.2:n.795G>C