Canonical Allele Identifier: CA380846103

Gene: BEST1 FTH1

Linked Data

• MyVariant Identifiers: chr11:g.61727391C>T (hg19) ; chr11:g.61959919C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959919C>T , CM000673.2:g.61959919C>T	GRCh38
NC_000011.9:g.61727391C>T , CM000673.1:g.61727391C>T	GRCh37
NC_000011.8:g.61483967C>T	NCBI36
NG_009033.1:g.15036C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.976C>T (BEST1) MANE Select	ENSP00000367282.4:p.His326Tyr
ENST00000378043.8:c.976C>T (BEST1)	ENSP00000367282.4:p.His326Tyr
ENST00000449131.6:c.796C>T (BEST1)	ENSP00000399709.2:p.His266Tyr
ENST00000524877.5:n.2607C>T (BEST1)
ENST00000524926.5:c.1179C>T (BEST1)	ENSP00000432681.1:p.Cys393=
ENST00000526988.1:c.861C>T (BEST1)	ENSP00000433195.1:p.Cys287=
ENST00000529191.5:c.123G>A (FTH1)	ENSP00000431659.1:p.Val41=
ENST00000529631.5:c.115-15G>A (FTH1)	ENSP00000431575.1:n.115-15G>A
ENST00000530019.5:c.262-15G>A (FTH1)	ENSP00000433470.1:n.262-15G>A
ENST00000534553.5:c.164-2336C>T (BEST1)	ENSP00000431189.1:n.164-2336C>T
NM_001139443.1:c.796C>T (BEST1)	NP_001132915.1:p.His266Tyr
NM_001300786.1:c.715C>T (BEST1)	NP_001287715.1:p.His239Tyr
NM_001300787.1:c.796C>T (BEST1)	NP_001287716.1:p.His266Tyr
NM_004183.3:c.976C>T (BEST1)	NP_004174.1:p.His326Tyr
XM_005274210.2:c.976C>T (BEST1)	XP_005274267.1:p.His326Tyr
XM_005274215.2:c.658C>T (BEST1)	XP_005274272.1:p.His220Tyr
XM_005274216.2:c.999C>T (BEST1)	XP_005274273.1:p.Cys333=
XM_005274218.3:c.861C>T (BEST1)	XP_005274275.1:p.Cys287=
XM_005274219.2:c.867+1621C>T (BEST1)	XP_005274276.1:n.867+1621C>T
XM_005274221.2:c.715-2336C>T (BEST1)	XP_005274278.1:n.715-2336C>T
XM_011545229.1:c.976C>T (BEST1)	XP_011543531.1:p.His326Tyr
XM_011545230.1:c.883C>T (BEST1)	XP_011543532.1:p.His295Tyr
XM_011545231.1:c.658C>T (BEST1)	XP_011543533.1:p.His220Tyr
XM_011545232.1:c.1179C>T (BEST1)	XP_011543534.1:p.Cys393=
XM_011545233.1:c.133C>T (BEST1)	XP_011543535.1:p.His45Tyr
NM_001363591.1:c.658C>T (BEST1)	NP_001350520.1:p.His220Tyr
NM_001363592.1:c.1179C>T (BEST1)	NP_001350521.1:p.Cys393=
NM_001363593.1:c.4C>T (BEST1)	NP_001350522.1:p.His2Tyr
NR_134580.1:n.1759C>T (BEST1)
XM_005274210.4:c.976C>T (BEST1)	XP_005274267.1:p.His326Tyr
XM_005274215.4:c.658C>T (BEST1)	XP_005274272.1:p.His220Tyr
XM_005274216.4:c.999C>T (BEST1)	XP_005274273.1:p.Cys333=
XM_005274219.4:c.867+1621C>T (BEST1)	XP_005274276.1:n.867+1621C>T
XM_005274221.4:c.715-2336C>T (BEST1)	XP_005274278.1:n.715-2336C>T
XM_011545229.3:c.976C>T (BEST1)	XP_011543531.1:p.His326Tyr
XM_011545230.3:c.883C>T (BEST1)	XP_011543532.1:p.His295Tyr
XM_011545233.3:c.133C>T (BEST1)	XP_011543535.1:p.His45Tyr
XM_017018230.2:c.861C>T (BEST1)	XP_016873719.1:p.Cys287=
XR_001747952.2:n.1677C>T (BEST1)
XR_001747953.2:n.1557+1621C>T (BEST1)
XR_001747954.2:n.1405-2336C>T (BEST1)
XR_001748245.1:n.9G>A
XR_002957249.1:n.9G>A
NM_004183.4:c.976C>T (BEST1) MANE Select	NP_004174.1:p.His326Tyr
NM_001139443.2:c.796C>T (BEST1)	NP_001132915.1:p.His266Tyr
NM_001300786.2:c.715C>T (BEST1)	NP_001287715.1:p.His239Tyr
NM_001300787.2:c.796C>T (BEST1)	NP_001287716.1:p.His266Tyr
NM_001363591.2:c.658C>T (BEST1)	NP_001350520.1:p.His220Tyr
NM_001363593.2:c.4C>T (BEST1)	NP_001350522.1:p.His2Tyr
NR_134580.2:n.1292C>T (BEST1)