Canonical Allele Identifier: CA380846368

Gene: BEST1 FTH1

Linked Data

• MyVariant Identifiers: chr11:g.61727491T>A (hg19) ; chr11:g.61960019T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61960019T>A , CM000673.2:g.61960019T>A	GRCh38
NC_000011.9:g.61727491T>A , CM000673.1:g.61727491T>A	GRCh37
NC_000011.8:g.61484067T>A	NCBI36
NG_009033.1:g.15136T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.1076T>A (BEST1) MANE Select	ENSP00000367282.4:p.Phe359Tyr
ENST00000378043.8:c.1076T>A (BEST1)	ENSP00000367282.4:p.Phe359Tyr
ENST00000449131.6:c.896T>A (BEST1)	ENSP00000399709.2:p.Phe299Tyr
ENST00000524877.5:n.2707T>A (BEST1)
ENST00000524926.5:c.1279T>A (BEST1)	ENSP00000432681.1:p.Leu427Ile
ENST00000526988.1:c.961T>A (BEST1)	ENSP00000433195.1:p.Leu321Ile
ENST00000529191.5:c.115-92A>T (FTH1)	ENSP00000431659.1:n.115-92A>T
ENST00000529631.5:c.115-115A>T (FTH1)	ENSP00000431575.1:n.115-115A>T
ENST00000530019.5:c.262-115A>T (FTH1)	ENSP00000433470.1:n.262-115A>T
ENST00000534553.5:c.164-2236T>A (BEST1)	ENSP00000431189.1:n.164-2236T>A
NM_001139443.1:c.896T>A (BEST1)	NP_001132915.1:p.Phe299Tyr
NM_001300786.1:c.815T>A (BEST1)	NP_001287715.1:p.Phe272Tyr
NM_001300787.1:c.896T>A (BEST1)	NP_001287716.1:p.Phe299Tyr
NM_004183.3:c.1076T>A (BEST1)	NP_004174.1:p.Phe359Tyr
XM_005274210.2:c.1076T>A (BEST1)	XP_005274267.1:p.Phe359Tyr
XM_005274215.2:c.758T>A (BEST1)	XP_005274272.1:p.Phe253Tyr
XM_005274216.2:c.1099T>A (BEST1)	XP_005274273.1:p.Leu367Ile
XM_005274218.3:c.961T>A (BEST1)	XP_005274275.1:p.Leu321Ile
XM_005274219.2:c.867+1721T>A (BEST1)	XP_005274276.1:n.867+1721T>A
XM_005274221.2:c.715-2236T>A (BEST1)	XP_005274278.1:n.715-2236T>A
XM_011545229.1:c.1076T>A (BEST1)	XP_011543531.1:p.Phe359Tyr
XM_011545230.1:c.983T>A (BEST1)	XP_011543532.1:p.Phe328Tyr
XM_011545231.1:c.758T>A (BEST1)	XP_011543533.1:p.Phe253Tyr
XM_011545232.1:c.1279T>A (BEST1)	XP_011543534.1:p.Leu427Ile
XM_011545233.1:c.233T>A (BEST1)	XP_011543535.1:p.Phe78Tyr
NM_001363591.1:c.758T>A (BEST1)	NP_001350520.1:p.Phe253Tyr
NM_001363592.1:c.1279T>A (BEST1)	NP_001350521.1:p.Leu427Ile
NM_001363593.1:c.104T>A (BEST1)	NP_001350522.1:p.Phe35Tyr
NR_134580.1:n.1859T>A (BEST1)
XM_005274210.4:c.1076T>A (BEST1)	XP_005274267.1:p.Phe359Tyr
XM_005274215.4:c.758T>A (BEST1)	XP_005274272.1:p.Phe253Tyr
XM_005274216.4:c.1099T>A (BEST1)	XP_005274273.1:p.Leu367Ile
XM_005274219.4:c.867+1721T>A (BEST1)	XP_005274276.1:n.867+1721T>A
XM_005274221.4:c.715-2236T>A (BEST1)	XP_005274278.1:n.715-2236T>A
XM_011545229.3:c.1076T>A (BEST1)	XP_011543531.1:p.Phe359Tyr
XM_011545230.3:c.983T>A (BEST1)	XP_011543532.1:p.Phe328Tyr
XM_011545233.3:c.233T>A (BEST1)	XP_011543535.1:p.Phe78Tyr
XM_017018230.2:c.961T>A (BEST1)	XP_016873719.1:p.Leu321Ile
XR_001747952.2:n.1777T>A (BEST1)
XR_001747953.2:n.1557+1721T>A (BEST1)
XR_001747954.2:n.1405-2236T>A (BEST1)
NM_004183.4:c.1076T>A (BEST1) MANE Select	NP_004174.1:p.Phe359Tyr
NM_001139443.2:c.896T>A (BEST1)	NP_001132915.1:p.Phe299Tyr
NM_001300786.2:c.815T>A (BEST1)	NP_001287715.1:p.Phe272Tyr
NM_001300787.2:c.896T>A (BEST1)	NP_001287716.1:p.Phe299Tyr
NM_001363591.2:c.758T>A (BEST1)	NP_001350520.1:p.Phe253Tyr
NM_001363593.2:c.104T>A (BEST1)	NP_001350522.1:p.Phe35Tyr
NR_134580.2:n.1392T>A (BEST1)