Canonical Allele Identifier: CA380846055

Gene: BEST1 FTH1

Linked Data

• MyVariant Identifiers: chr11:g.61727374T>A (hg19) ; chr11:g.61959902T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959902T>A , CM000673.2:g.61959902T>A	GRCh38
NC_000011.9:g.61727374T>A , CM000673.1:g.61727374T>A	GRCh37
NC_000011.8:g.61483950T>A	NCBI36
NG_009033.1:g.15019T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.959T>A (BEST1) MANE Select	ENSP00000367282.4:p.Leu320Ter
ENST00000378043.8:c.959T>A (BEST1)	ENSP00000367282.4:p.Leu320Ter
ENST00000449131.6:c.779T>A (BEST1)	ENSP00000399709.2:p.Leu260Ter
ENST00000524877.5:n.2590T>A (BEST1)
ENST00000524926.5:c.1162T>A (BEST1)	ENSP00000432681.1:p.Trp388Arg
ENST00000526988.1:c.844T>A (BEST1)	ENSP00000433195.1:p.Trp282Arg
ENST00000529191.5:c.140A>T (FTH1)	ENSP00000431659.1:p.Gln47Leu
ENST00000529631.5:c.117A>T (FTH1)	ENSP00000431575.1:p.Pro39=
ENST00000530019.5:c.264A>T (FTH1)	ENSP00000433470.1:p.Pro88=
ENST00000534553.5:c.164-2353T>A (BEST1)	ENSP00000431189.1:n.164-2353T>A
NM_001139443.1:c.779T>A (BEST1)	NP_001132915.1:p.Leu260Ter
NM_001300786.1:c.698T>A (BEST1)	NP_001287715.1:p.Leu233Ter
NM_001300787.1:c.779T>A (BEST1)	NP_001287716.1:p.Leu260Ter
NM_004183.3:c.959T>A (BEST1)	NP_004174.1:p.Leu320Ter
XM_005274210.2:c.959T>A (BEST1)	XP_005274267.1:p.Leu320Ter
XM_005274215.2:c.641T>A (BEST1)	XP_005274272.1:p.Leu214Ter
XM_005274216.2:c.982T>A (BEST1)	XP_005274273.1:p.Trp328Arg
XM_005274218.3:c.844T>A (BEST1)	XP_005274275.1:p.Trp282Arg
XM_005274219.2:c.867+1604T>A (BEST1)	XP_005274276.1:n.867+1604T>A
XM_005274221.2:c.715-2353T>A (BEST1)	XP_005274278.1:n.715-2353T>A
XM_011545229.1:c.959T>A (BEST1)	XP_011543531.1:p.Leu320Ter
XM_011545230.1:c.866T>A (BEST1)	XP_011543532.1:p.Leu289Ter
XM_011545231.1:c.641T>A (BEST1)	XP_011543533.1:p.Leu214Ter
XM_011545232.1:c.1162T>A (BEST1)	XP_011543534.1:p.Trp388Arg
XM_011545233.1:c.116T>A (BEST1)	XP_011543535.1:p.Leu39Ter
NM_001363591.1:c.641T>A (BEST1)	NP_001350520.1:p.Leu214Ter
NM_001363592.1:c.1162T>A (BEST1)	NP_001350521.1:p.Trp388Arg
NM_001363593.1:c.-14T>A (BEST1)	NP_001350522.1:n.-14T>A
NR_134580.1:n.1742T>A (BEST1)
XM_005274210.4:c.959T>A (BEST1)	XP_005274267.1:p.Leu320Ter
XM_005274215.4:c.641T>A (BEST1)	XP_005274272.1:p.Leu214Ter
XM_005274216.4:c.982T>A (BEST1)	XP_005274273.1:p.Trp328Arg
XM_005274219.4:c.867+1604T>A (BEST1)	XP_005274276.1:n.867+1604T>A
XM_005274221.4:c.715-2353T>A (BEST1)	XP_005274278.1:n.715-2353T>A
XM_011545229.3:c.959T>A (BEST1)	XP_011543531.1:p.Leu320Ter
XM_011545230.3:c.866T>A (BEST1)	XP_011543532.1:p.Leu289Ter
XM_011545233.3:c.116T>A (BEST1)	XP_011543535.1:p.Leu39Ter
XM_017018230.2:c.844T>A (BEST1)	XP_016873719.1:p.Trp282Arg
XR_001747952.2:n.1660T>A (BEST1)
XR_001747953.2:n.1557+1604T>A (BEST1)
XR_001747954.2:n.1405-2353T>A (BEST1)
XR_001748245.1:n.26A>T
XR_002957249.1:n.26A>T
NM_004183.4:c.959T>A (BEST1) MANE Select	NP_004174.1:p.Leu320Ter
NM_001139443.2:c.779T>A (BEST1)	NP_001132915.1:p.Leu260Ter
NM_001300786.2:c.698T>A (BEST1)	NP_001287715.1:p.Leu233Ter
NM_001300787.2:c.779T>A (BEST1)	NP_001287716.1:p.Leu260Ter
NM_001363591.2:c.641T>A (BEST1)	NP_001350520.1:p.Leu214Ter
NM_001363593.2:c.-14T>A (BEST1)	NP_001350522.1:n.-14T>A
NR_134580.2:n.1275T>A (BEST1)