Canonical Allele Identifier: CA380846052

Gene: BEST1 FTH1

Linked Data

• MyVariant Identifiers: chr11:g.61727373T>G (hg19) ; chr11:g.61959901T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959901T>G , CM000673.2:g.61959901T>G	GRCh38
NC_000011.9:g.61727373T>G , CM000673.1:g.61727373T>G	GRCh37
NC_000011.8:g.61483949T>G	NCBI36
NG_009033.1:g.15018T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.958T>G (BEST1) MANE Select	ENSP00000367282.4:p.Leu320Val
ENST00000378043.8:c.958T>G (BEST1)	ENSP00000367282.4:p.Leu320Val
ENST00000449131.6:c.778T>G (BEST1)	ENSP00000399709.2:p.Leu260Val
ENST00000524877.5:n.2589T>G (BEST1)
ENST00000524926.5:c.1161T>G (BEST1)	ENSP00000432681.1:p.Cys387Trp
ENST00000526988.1:c.843T>G (BEST1)	ENSP00000433195.1:p.Cys281Trp
ENST00000529191.5:c.141A>C (FTH1)	ENSP00000431659.1:p.Gln47His
ENST00000529631.5:c.118A>C (FTH1)	ENSP00000431575.1:p.Thr40Pro
ENST00000530019.5:c.265A>C (FTH1)	ENSP00000433470.1:p.Thr89Pro
ENST00000534553.5:c.164-2354T>G (BEST1)	ENSP00000431189.1:n.164-2354T>G
NM_001139443.1:c.778T>G (BEST1)	NP_001132915.1:p.Leu260Val
NM_001300786.1:c.697T>G (BEST1)	NP_001287715.1:p.Leu233Val
NM_001300787.1:c.778T>G (BEST1)	NP_001287716.1:p.Leu260Val
NM_004183.3:c.958T>G (BEST1)	NP_004174.1:p.Leu320Val
XM_005274210.2:c.958T>G (BEST1)	XP_005274267.1:p.Leu320Val
XM_005274215.2:c.640T>G (BEST1)	XP_005274272.1:p.Leu214Val
XM_005274216.2:c.981T>G (BEST1)	XP_005274273.1:p.Cys327Trp
XM_005274218.3:c.843T>G (BEST1)	XP_005274275.1:p.Cys281Trp
XM_005274219.2:c.867+1603T>G (BEST1)	XP_005274276.1:n.867+1603T>G
XM_005274221.2:c.715-2354T>G (BEST1)	XP_005274278.1:n.715-2354T>G
XM_011545229.1:c.958T>G (BEST1)	XP_011543531.1:p.Leu320Val
XM_011545230.1:c.865T>G (BEST1)	XP_011543532.1:p.Leu289Val
XM_011545231.1:c.640T>G (BEST1)	XP_011543533.1:p.Leu214Val
XM_011545232.1:c.1161T>G (BEST1)	XP_011543534.1:p.Cys387Trp
XM_011545233.1:c.115T>G (BEST1)	XP_011543535.1:p.Leu39Val
NM_001363591.1:c.640T>G (BEST1)	NP_001350520.1:p.Leu214Val
NM_001363592.1:c.1161T>G (BEST1)	NP_001350521.1:p.Cys387Trp
NM_001363593.1:c.-15T>G (BEST1)	NP_001350522.1:n.-15T>G
NR_134580.1:n.1741T>G (BEST1)
XM_005274210.4:c.958T>G (BEST1)	XP_005274267.1:p.Leu320Val
XM_005274215.4:c.640T>G (BEST1)	XP_005274272.1:p.Leu214Val
XM_005274216.4:c.981T>G (BEST1)	XP_005274273.1:p.Cys327Trp
XM_005274219.4:c.867+1603T>G (BEST1)	XP_005274276.1:n.867+1603T>G
XM_005274221.4:c.715-2354T>G (BEST1)	XP_005274278.1:n.715-2354T>G
XM_011545229.3:c.958T>G (BEST1)	XP_011543531.1:p.Leu320Val
XM_011545230.3:c.865T>G (BEST1)	XP_011543532.1:p.Leu289Val
XM_011545233.3:c.115T>G (BEST1)	XP_011543535.1:p.Leu39Val
XM_017018230.2:c.843T>G (BEST1)	XP_016873719.1:p.Cys281Trp
XR_001747952.2:n.1659T>G (BEST1)
XR_001747953.2:n.1557+1603T>G (BEST1)
XR_001747954.2:n.1405-2354T>G (BEST1)
XR_001748245.1:n.27A>C
XR_002957249.1:n.27A>C
NM_004183.4:c.958T>G (BEST1) MANE Select	NP_004174.1:p.Leu320Val
NM_001139443.2:c.778T>G (BEST1)	NP_001132915.1:p.Leu260Val
NM_001300786.2:c.697T>G (BEST1)	NP_001287715.1:p.Leu233Val
NM_001300787.2:c.778T>G (BEST1)	NP_001287716.1:p.Leu260Val
NM_001363591.2:c.640T>G (BEST1)	NP_001350520.1:p.Leu214Val
NM_001363593.2:c.-15T>G (BEST1)	NP_001350522.1:n.-15T>G
NR_134580.2:n.1274T>G (BEST1)