Canonical Allele Identifier: CA380846092

Gene: BEST1 FTH1

Linked Data

• MyVariant Identifiers: chr11:g.61727387G>C (hg19) ; chr11:g.61959915G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959915G>C , CM000673.2:g.61959915G>C	GRCh38
NC_000011.9:g.61727387G>C , CM000673.1:g.61727387G>C	GRCh37
NC_000011.8:g.61483963G>C	NCBI36
NG_009033.1:g.15032G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.972G>C (BEST1) MANE Select	ENSP00000367282.4:p.Glu324Asp
ENST00000378043.8:c.972G>C (BEST1)	ENSP00000367282.4:p.Glu324Asp
ENST00000449131.6:c.792G>C (BEST1)	ENSP00000399709.2:p.Glu264Asp
ENST00000524877.5:n.2603G>C (BEST1)
ENST00000524926.5:c.1175G>C (BEST1)	ENSP00000432681.1:p.Arg392Thr
ENST00000526988.1:c.857G>C (BEST1)	ENSP00000433195.1:p.Arg286Thr
ENST00000529191.5:c.127C>G (FTH1)	ENSP00000431659.1:p.Leu43Val
ENST00000529631.5:c.115-11C>G (FTH1)	ENSP00000431575.1:n.115-11C>G
ENST00000530019.5:c.262-11C>G (FTH1)	ENSP00000433470.1:n.262-11C>G
ENST00000534553.5:c.164-2340G>C (BEST1)	ENSP00000431189.1:n.164-2340G>C
NM_001139443.1:c.792G>C (BEST1)	NP_001132915.1:p.Glu264Asp
NM_001300786.1:c.711G>C (BEST1)	NP_001287715.1:p.Glu237Asp
NM_001300787.1:c.792G>C (BEST1)	NP_001287716.1:p.Glu264Asp
NM_004183.3:c.972G>C (BEST1)	NP_004174.1:p.Glu324Asp
XM_005274210.2:c.972G>C (BEST1)	XP_005274267.1:p.Glu324Asp
XM_005274215.2:c.654G>C (BEST1)	XP_005274272.1:p.Glu218Asp
XM_005274216.2:c.995G>C (BEST1)	XP_005274273.1:p.Arg332Thr
XM_005274218.3:c.857G>C (BEST1)	XP_005274275.1:p.Arg286Thr
XM_005274219.2:c.867+1617G>C (BEST1)	XP_005274276.1:n.867+1617G>C
XM_005274221.2:c.715-2340G>C (BEST1)	XP_005274278.1:n.715-2340G>C
XM_011545229.1:c.972G>C (BEST1)	XP_011543531.1:p.Glu324Asp
XM_011545230.1:c.879G>C (BEST1)	XP_011543532.1:p.Glu293Asp
XM_011545231.1:c.654G>C (BEST1)	XP_011543533.1:p.Glu218Asp
XM_011545232.1:c.1175G>C (BEST1)	XP_011543534.1:p.Arg392Thr
XM_011545233.1:c.129G>C (BEST1)	XP_011543535.1:p.Glu43Asp
NM_001363591.1:c.654G>C (BEST1)	NP_001350520.1:p.Glu218Asp
NM_001363592.1:c.1175G>C (BEST1)	NP_001350521.1:p.Arg392Thr
NM_001363593.1:c.-1G>C (BEST1)	NP_001350522.1:n.-1G>C
NR_134580.1:n.1755G>C (BEST1)
XM_005274210.4:c.972G>C (BEST1)	XP_005274267.1:p.Glu324Asp
XM_005274215.4:c.654G>C (BEST1)	XP_005274272.1:p.Glu218Asp
XM_005274216.4:c.995G>C (BEST1)	XP_005274273.1:p.Arg332Thr
XM_005274219.4:c.867+1617G>C (BEST1)	XP_005274276.1:n.867+1617G>C
XM_005274221.4:c.715-2340G>C (BEST1)	XP_005274278.1:n.715-2340G>C
XM_011545229.3:c.972G>C (BEST1)	XP_011543531.1:p.Glu324Asp
XM_011545230.3:c.879G>C (BEST1)	XP_011543532.1:p.Glu293Asp
XM_011545233.3:c.129G>C (BEST1)	XP_011543535.1:p.Glu43Asp
XM_017018230.2:c.857G>C (BEST1)	XP_016873719.1:p.Arg286Thr
XR_001747952.2:n.1673G>C (BEST1)
XR_001747953.2:n.1557+1617G>C (BEST1)
XR_001747954.2:n.1405-2340G>C (BEST1)
XR_001748245.1:n.13C>G
XR_002957249.1:n.13C>G
NM_004183.4:c.972G>C (BEST1) MANE Select	NP_004174.1:p.Glu324Asp
NM_001139443.2:c.792G>C (BEST1)	NP_001132915.1:p.Glu264Asp
NM_001300786.2:c.711G>C (BEST1)	NP_001287715.1:p.Glu237Asp
NM_001300787.2:c.792G>C (BEST1)	NP_001287716.1:p.Glu264Asp
NM_001363591.2:c.654G>C (BEST1)	NP_001350520.1:p.Glu218Asp
NM_001363593.2:c.-1G>C (BEST1)	NP_001350522.1:n.-1G>C
NR_134580.2:n.1288G>C (BEST1)