Canonical Allele Identifier: CA1977534838

Gene: BEST1 FTH1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959979C= , CM000673.2:g.61959979C=	GRCh38
NC_000011.9:g.61727451C= , CM000673.1:g.61727451C=	GRCh37
NC_000011.8:g.61484027C=	NCBI36
NG_009033.1:g.15096C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.1036C= (BEST1) MANE Select	ENSP00000367282.4:p.Pro346=
ENST00000378043.8:c.1036C= (BEST1)	ENSP00000367282.4:p.Pro346=
ENST00000449131.6:c.856C= (BEST1)	ENSP00000399709.2:p.Pro286=
ENST00000524877.5:n.2667C= (BEST1)
ENST00000524926.5:c.1239C= (BEST1)	ENSP00000432681.1:p.Pro413=
ENST00000526988.1:c.921C= (BEST1)	ENSP00000433195.1:p.Pro307=
ENST00000529191.5:c.115-52G= (FTH1)	ENSP00000431659.1:n.115-52G=
ENST00000529631.5:c.115-75G= (FTH1)	ENSP00000431575.1:n.115-75G=
ENST00000530019.5:c.262-75G= (FTH1)	ENSP00000433470.1:n.262-75G=
ENST00000534553.5:c.164-2276C= (BEST1)	ENSP00000431189.1:n.164-2276C=
NM_001139443.1:c.856C= (BEST1)	NP_001132915.1:p.Pro286=
NM_001300786.1:c.775C= (BEST1)	NP_001287715.1:p.Pro259=
NM_001300787.1:c.856C= (BEST1)	NP_001287716.1:p.Pro286=
NM_004183.3:c.1036C= (BEST1)	NP_004174.1:p.Pro346=
XM_005274210.2:c.1036C= (BEST1)	XP_005274267.1:p.Pro346=
XM_005274215.2:c.718C= (BEST1)	XP_005274272.1:p.Pro240=
XM_005274216.2:c.1059C= (BEST1)	XP_005274273.1:p.Pro353=
XM_005274218.3:c.921C= (BEST1)	XP_005274275.1:p.Pro307=
XM_005274219.2:c.867+1681C= (BEST1)	XP_005274276.1:n.867+1681C=
XM_005274221.2:c.715-2276C= (BEST1)	XP_005274278.1:n.715-2276C=
XM_011545229.1:c.1036C= (BEST1)	XP_011543531.1:p.Pro346=
XM_011545230.1:c.943C= (BEST1)	XP_011543532.1:p.Pro315=
XM_011545231.1:c.718C= (BEST1)	XP_011543533.1:p.Pro240=
XM_011545232.1:c.1239C= (BEST1)	XP_011543534.1:p.Pro413=
XM_011545233.1:c.193C= (BEST1)	XP_011543535.1:p.Pro65=
NM_001363591.1:c.718C= (BEST1)	NP_001350520.1:p.Pro240=
NM_001363592.1:c.1239C= (BEST1)	NP_001350521.1:p.Pro413=
NM_001363593.1:c.64C= (BEST1)	NP_001350522.1:p.Pro22=
NR_134580.1:n.1819C= (BEST1)
XM_005274210.4:c.1036C= (BEST1)	XP_005274267.1:p.Pro346=
XM_005274215.4:c.718C= (BEST1)	XP_005274272.1:p.Pro240=
XM_005274216.4:c.1059C= (BEST1)	XP_005274273.1:p.Pro353=
XM_005274219.4:c.867+1681C= (BEST1)	XP_005274276.1:n.867+1681C=
XM_005274221.4:c.715-2276C= (BEST1)	XP_005274278.1:n.715-2276C=
XM_011545229.3:c.1036C= (BEST1)	XP_011543531.1:p.Pro346=
XM_011545230.3:c.943C= (BEST1)	XP_011543532.1:p.Pro315=
XM_011545233.3:c.193C= (BEST1)	XP_011543535.1:p.Pro65=
XM_017018230.2:c.921C= (BEST1)	XP_016873719.1:p.Pro307=
XR_001747952.2:n.1737C= (BEST1)
XR_001747953.2:n.1557+1681C= (BEST1)
XR_001747954.2:n.1405-2276C= (BEST1)
NM_004183.4:c.1036C= (BEST1) MANE Select	NP_004174.1:p.Pro346=
NM_001139443.2:c.856C= (BEST1)	NP_001132915.1:p.Pro286=
NM_001300786.2:c.775C= (BEST1)	NP_001287715.1:p.Pro259=
NM_001300787.2:c.856C= (BEST1)	NP_001287716.1:p.Pro286=
NM_001363591.2:c.718C= (BEST1)	NP_001350520.1:p.Pro240=
NM_001363593.2:c.64C= (BEST1)	NP_001350522.1:p.Pro22=
NR_134580.2:n.1352C= (BEST1)