Canonical Allele Identifier: CA1977534702

Gene: BEST1 FTH1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959929T= , CM000673.2:g.61959929T=	GRCh38
NC_000011.9:g.61727401T= , CM000673.1:g.61727401T=	GRCh37
NC_000011.8:g.61483977T=	NCBI36
NG_009033.1:g.15046T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.986T= (BEST1) MANE Select	ENSP00000367282.4:p.Leu329=
ENST00000378043.8:c.986T= (BEST1)	ENSP00000367282.4:p.Leu329=
ENST00000449131.6:c.806T= (BEST1)	ENSP00000399709.2:p.Leu269=
ENST00000524877.5:n.2617T= (BEST1)
ENST00000524926.5:c.1189T= (BEST1)	ENSP00000432681.1:p.Cys397=
ENST00000526988.1:c.871T= (BEST1)	ENSP00000433195.1:p.Cys291=
ENST00000529191.5:c.115-2A= (FTH1)	ENSP00000431659.1:n.115-2A=
ENST00000529631.5:c.115-25A= (FTH1)	ENSP00000431575.1:n.115-25A=
ENST00000530019.5:c.262-25A= (FTH1)	ENSP00000433470.1:n.262-25A=
ENST00000534553.5:c.164-2326T= (BEST1)	ENSP00000431189.1:n.164-2326T=
NM_001139443.1:c.806T= (BEST1)	NP_001132915.1:p.Leu269=
NM_001300786.1:c.725T= (BEST1)	NP_001287715.1:p.Leu242=
NM_001300787.1:c.806T= (BEST1)	NP_001287716.1:p.Leu269=
NM_004183.3:c.986T= (BEST1)	NP_004174.1:p.Leu329=
XM_005274210.2:c.986T= (BEST1)	XP_005274267.1:p.Leu329=
XM_005274215.2:c.668T= (BEST1)	XP_005274272.1:p.Leu223=
XM_005274216.2:c.1009T= (BEST1)	XP_005274273.1:p.Cys337=
XM_005274218.3:c.871T= (BEST1)	XP_005274275.1:p.Cys291=
XM_005274219.2:c.867+1631T= (BEST1)	XP_005274276.1:n.867+1631T=
XM_005274221.2:c.715-2326T= (BEST1)	XP_005274278.1:n.715-2326T=
XM_011545229.1:c.986T= (BEST1)	XP_011543531.1:p.Leu329=
XM_011545230.1:c.893T= (BEST1)	XP_011543532.1:p.Leu298=
XM_011545231.1:c.668T= (BEST1)	XP_011543533.1:p.Leu223=
XM_011545232.1:c.1189T= (BEST1)	XP_011543534.1:p.Cys397=
XM_011545233.1:c.143T= (BEST1)	XP_011543535.1:p.Leu48=
NM_001363591.1:c.668T= (BEST1)	NP_001350520.1:p.Leu223=
NM_001363592.1:c.1189T= (BEST1)	NP_001350521.1:p.Cys397=
NM_001363593.1:c.14T= (BEST1)	NP_001350522.1:p.Leu5=
NR_134580.1:n.1769T= (BEST1)
XM_005274210.4:c.986T= (BEST1)	XP_005274267.1:p.Leu329=
XM_005274215.4:c.668T= (BEST1)	XP_005274272.1:p.Leu223=
XM_005274216.4:c.1009T= (BEST1)	XP_005274273.1:p.Cys337=
XM_005274219.4:c.867+1631T= (BEST1)	XP_005274276.1:n.867+1631T=
XM_005274221.4:c.715-2326T= (BEST1)	XP_005274278.1:n.715-2326T=
XM_011545229.3:c.986T= (BEST1)	XP_011543531.1:p.Leu329=
XM_011545230.3:c.893T= (BEST1)	XP_011543532.1:p.Leu298=
XM_011545233.3:c.143T= (BEST1)	XP_011543535.1:p.Leu48=
XM_017018230.2:c.871T= (BEST1)	XP_016873719.1:p.Cys291=
XR_001747952.2:n.1687T= (BEST1)
XR_001747953.2:n.1557+1631T= (BEST1)
XR_001747954.2:n.1405-2326T= (BEST1)
NM_004183.4:c.986T= (BEST1) MANE Select	NP_004174.1:p.Leu329=
NM_001139443.2:c.806T= (BEST1)	NP_001132915.1:p.Leu269=
NM_001300786.2:c.725T= (BEST1)	NP_001287715.1:p.Leu242=
NM_001300787.2:c.806T= (BEST1)	NP_001287716.1:p.Leu269=
NM_001363591.2:c.668T= (BEST1)	NP_001350520.1:p.Leu223=
NM_001363593.2:c.14T= (BEST1)	NP_001350522.1:p.Leu5=
NR_134580.2:n.1302T= (BEST1)