Canonical Allele Identifier: CA380846240

Gene: BEST1 FTH1

Linked Data

• MyVariant Identifiers: chr11:g.61727443C>G (hg19) ; chr11:g.61959971C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959971C>G , CM000673.2:g.61959971C>G	GRCh38
NC_000011.9:g.61727443C>G , CM000673.1:g.61727443C>G	GRCh37
NC_000011.8:g.61484019C>G	NCBI36
NG_009033.1:g.15088C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.1028C>G (BEST1) MANE Select	ENSP00000367282.4:p.Pro343Arg
ENST00000378043.8:c.1028C>G (BEST1)	ENSP00000367282.4:p.Pro343Arg
ENST00000449131.6:c.848C>G (BEST1)	ENSP00000399709.2:p.Pro283Arg
ENST00000524877.5:n.2659C>G (BEST1)
ENST00000524926.5:c.1231C>G (BEST1)	ENSP00000432681.1:p.His411Asp
ENST00000526988.1:c.913C>G (BEST1)	ENSP00000433195.1:p.His305Asp
ENST00000529191.5:c.115-44G>C (FTH1)	ENSP00000431659.1:n.115-44G>C
ENST00000529631.5:c.115-67G>C (FTH1)	ENSP00000431575.1:n.115-67G>C
ENST00000530019.5:c.262-67G>C (FTH1)	ENSP00000433470.1:n.262-67G>C
ENST00000534553.5:c.164-2284C>G (BEST1)	ENSP00000431189.1:n.164-2284C>G
NM_001139443.1:c.848C>G (BEST1)	NP_001132915.1:p.Pro283Arg
NM_001300786.1:c.767C>G (BEST1)	NP_001287715.1:p.Pro256Arg
NM_001300787.1:c.848C>G (BEST1)	NP_001287716.1:p.Pro283Arg
NM_004183.3:c.1028C>G (BEST1)	NP_004174.1:p.Pro343Arg
XM_005274210.2:c.1028C>G (BEST1)	XP_005274267.1:p.Pro343Arg
XM_005274215.2:c.710C>G (BEST1)	XP_005274272.1:p.Pro237Arg
XM_005274216.2:c.1051C>G (BEST1)	XP_005274273.1:p.His351Asp
XM_005274218.3:c.913C>G (BEST1)	XP_005274275.1:p.His305Asp
XM_005274219.2:c.867+1673C>G (BEST1)	XP_005274276.1:n.867+1673C>G
XM_005274221.2:c.715-2284C>G (BEST1)	XP_005274278.1:n.715-2284C>G
XM_011545229.1:c.1028C>G (BEST1)	XP_011543531.1:p.Pro343Arg
XM_011545230.1:c.935C>G (BEST1)	XP_011543532.1:p.Pro312Arg
XM_011545231.1:c.710C>G (BEST1)	XP_011543533.1:p.Pro237Arg
XM_011545232.1:c.1231C>G (BEST1)	XP_011543534.1:p.His411Asp
XM_011545233.1:c.185C>G (BEST1)	XP_011543535.1:p.Pro62Arg
NM_001363591.1:c.710C>G (BEST1)	NP_001350520.1:p.Pro237Arg
NM_001363592.1:c.1231C>G (BEST1)	NP_001350521.1:p.His411Asp
NM_001363593.1:c.56C>G (BEST1)	NP_001350522.1:p.Pro19Arg
NR_134580.1:n.1811C>G (BEST1)
XM_005274210.4:c.1028C>G (BEST1)	XP_005274267.1:p.Pro343Arg
XM_005274215.4:c.710C>G (BEST1)	XP_005274272.1:p.Pro237Arg
XM_005274216.4:c.1051C>G (BEST1)	XP_005274273.1:p.His351Asp
XM_005274219.4:c.867+1673C>G (BEST1)	XP_005274276.1:n.867+1673C>G
XM_005274221.4:c.715-2284C>G (BEST1)	XP_005274278.1:n.715-2284C>G
XM_011545229.3:c.1028C>G (BEST1)	XP_011543531.1:p.Pro343Arg
XM_011545230.3:c.935C>G (BEST1)	XP_011543532.1:p.Pro312Arg
XM_011545233.3:c.185C>G (BEST1)	XP_011543535.1:p.Pro62Arg
XM_017018230.2:c.913C>G (BEST1)	XP_016873719.1:p.His305Asp
XR_001747952.2:n.1729C>G (BEST1)
XR_001747953.2:n.1557+1673C>G (BEST1)
XR_001747954.2:n.1405-2284C>G (BEST1)
NM_004183.4:c.1028C>G (BEST1) MANE Select	NP_004174.1:p.Pro343Arg
NM_001139443.2:c.848C>G (BEST1)	NP_001132915.1:p.Pro283Arg
NM_001300786.2:c.767C>G (BEST1)	NP_001287715.1:p.Pro256Arg
NM_001300787.2:c.848C>G (BEST1)	NP_001287716.1:p.Pro283Arg
NM_001363591.2:c.710C>G (BEST1)	NP_001350520.1:p.Pro237Arg
NM_001363593.2:c.56C>G (BEST1)	NP_001350522.1:p.Pro19Arg
NR_134580.2:n.1344C>G (BEST1)