Canonical Allele Identifier: CA380846060

Gene: BEST1 FTH1

Linked Data

• MyVariant Identifiers: chr11:g.61727375G>T (hg19) ; chr11:g.61959903G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959903G>T , CM000673.2:g.61959903G>T	GRCh38
NC_000011.9:g.61727375G>T , CM000673.1:g.61727375G>T	GRCh37
NC_000011.8:g.61483951G>T	NCBI36
NG_009033.1:g.15020G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.960G>T (BEST1) MANE Select	ENSP00000367282.4:p.Leu320Phe
ENST00000378043.8:c.960G>T (BEST1)	ENSP00000367282.4:p.Leu320Phe
ENST00000449131.6:c.780G>T (BEST1)	ENSP00000399709.2:p.Leu260Phe
ENST00000524877.5:n.2591G>T (BEST1)
ENST00000524926.5:c.1163G>T (BEST1)	ENSP00000432681.1:p.Trp388Leu
ENST00000526988.1:c.845G>T (BEST1)	ENSP00000433195.1:p.Trp282Leu
ENST00000529191.5:c.139C>A (FTH1)	ENSP00000431659.1:p.Gln47Lys
ENST00000529631.5:c.116C>A (FTH1)	ENSP00000431575.1:p.Pro39Gln
ENST00000530019.5:c.263C>A (FTH1)	ENSP00000433470.1:p.Pro88Gln
ENST00000534553.5:c.164-2352G>T (BEST1)	ENSP00000431189.1:n.164-2352G>T
NM_001139443.1:c.780G>T (BEST1)	NP_001132915.1:p.Leu260Phe
NM_001300786.1:c.699G>T (BEST1)	NP_001287715.1:p.Leu233Phe
NM_001300787.1:c.780G>T (BEST1)	NP_001287716.1:p.Leu260Phe
NM_004183.3:c.960G>T (BEST1)	NP_004174.1:p.Leu320Phe
XM_005274210.2:c.960G>T (BEST1)	XP_005274267.1:p.Leu320Phe
XM_005274215.2:c.642G>T (BEST1)	XP_005274272.1:p.Leu214Phe
XM_005274216.2:c.983G>T (BEST1)	XP_005274273.1:p.Trp328Leu
XM_005274218.3:c.845G>T (BEST1)	XP_005274275.1:p.Trp282Leu
XM_005274219.2:c.867+1605G>T (BEST1)	XP_005274276.1:n.867+1605G>T
XM_005274221.2:c.715-2352G>T (BEST1)	XP_005274278.1:n.715-2352G>T
XM_011545229.1:c.960G>T (BEST1)	XP_011543531.1:p.Leu320Phe
XM_011545230.1:c.867G>T (BEST1)	XP_011543532.1:p.Leu289Phe
XM_011545231.1:c.642G>T (BEST1)	XP_011543533.1:p.Leu214Phe
XM_011545232.1:c.1163G>T (BEST1)	XP_011543534.1:p.Trp388Leu
XM_011545233.1:c.117G>T (BEST1)	XP_011543535.1:p.Leu39Phe
NM_001363591.1:c.642G>T (BEST1)	NP_001350520.1:p.Leu214Phe
NM_001363592.1:c.1163G>T (BEST1)	NP_001350521.1:p.Trp388Leu
NM_001363593.1:c.-13G>T (BEST1)	NP_001350522.1:n.-13G>T
NR_134580.1:n.1743G>T (BEST1)
XM_005274210.4:c.960G>T (BEST1)	XP_005274267.1:p.Leu320Phe
XM_005274215.4:c.642G>T (BEST1)	XP_005274272.1:p.Leu214Phe
XM_005274216.4:c.983G>T (BEST1)	XP_005274273.1:p.Trp328Leu
XM_005274219.4:c.867+1605G>T (BEST1)	XP_005274276.1:n.867+1605G>T
XM_005274221.4:c.715-2352G>T (BEST1)	XP_005274278.1:n.715-2352G>T
XM_011545229.3:c.960G>T (BEST1)	XP_011543531.1:p.Leu320Phe
XM_011545230.3:c.867G>T (BEST1)	XP_011543532.1:p.Leu289Phe
XM_011545233.3:c.117G>T (BEST1)	XP_011543535.1:p.Leu39Phe
XM_017018230.2:c.845G>T (BEST1)	XP_016873719.1:p.Trp282Leu
XR_001747952.2:n.1661G>T (BEST1)
XR_001747953.2:n.1557+1605G>T (BEST1)
XR_001747954.2:n.1405-2352G>T (BEST1)
XR_001748245.1:n.25C>A
XR_002957249.1:n.25C>A
NM_004183.4:c.960G>T (BEST1) MANE Select	NP_004174.1:p.Leu320Phe
NM_001139443.2:c.780G>T (BEST1)	NP_001132915.1:p.Leu260Phe
NM_001300786.2:c.699G>T (BEST1)	NP_001287715.1:p.Leu233Phe
NM_001300787.2:c.780G>T (BEST1)	NP_001287716.1:p.Leu260Phe
NM_001363591.2:c.642G>T (BEST1)	NP_001350520.1:p.Leu214Phe
NM_001363593.2:c.-13G>T (BEST1)	NP_001350522.1:n.-13G>T
NR_134580.2:n.1276G>T (BEST1)