Canonical Allele Identifier: CA380846319

Gene: BEST1 FTH1

Linked Data

• COSMIC: COSM226680
• MyVariant Identifiers: chr11:g.61727472C>A (hg19) ; chr11:g.61960000C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61960000C>A , CM000673.2:g.61960000C>A	GRCh38
NC_000011.9:g.61727472C>A , CM000673.1:g.61727472C>A	GRCh37
NC_000011.8:g.61484048C>A	NCBI36
NG_009033.1:g.15117C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.1057C>A (BEST1) MANE Select	ENSP00000367282.4:p.Gln353Lys
ENST00000378043.8:c.1057C>A (BEST1)	ENSP00000367282.4:p.Gln353Lys
ENST00000449131.6:c.877C>A (BEST1)	ENSP00000399709.2:p.Gln293Lys
ENST00000524877.5:n.2688C>A (BEST1)
ENST00000524926.5:c.1260C>A (BEST1)	ENSP00000432681.1:p.Pro420=
ENST00000526988.1:c.942C>A (BEST1)	ENSP00000433195.1:p.Pro314=
ENST00000529191.5:c.115-73G>T (FTH1)	ENSP00000431659.1:n.115-73G>T
ENST00000529631.5:c.115-96G>T (FTH1)	ENSP00000431575.1:n.115-96G>T
ENST00000530019.5:c.262-96G>T (FTH1)	ENSP00000433470.1:n.262-96G>T
ENST00000534553.5:c.164-2255C>A (BEST1)	ENSP00000431189.1:n.164-2255C>A
NM_001139443.1:c.877C>A (BEST1)	NP_001132915.1:p.Gln293Lys
NM_001300786.1:c.796C>A (BEST1)	NP_001287715.1:p.Gln266Lys
NM_001300787.1:c.877C>A (BEST1)	NP_001287716.1:p.Gln293Lys
NM_004183.3:c.1057C>A (BEST1)	NP_004174.1:p.Gln353Lys
XM_005274210.2:c.1057C>A (BEST1)	XP_005274267.1:p.Gln353Lys
XM_005274215.2:c.739C>A (BEST1)	XP_005274272.1:p.Gln247Lys
XM_005274216.2:c.1080C>A (BEST1)	XP_005274273.1:p.Pro360=
XM_005274218.3:c.942C>A (BEST1)	XP_005274275.1:p.Pro314=
XM_005274219.2:c.867+1702C>A (BEST1)	XP_005274276.1:n.867+1702C>A
XM_005274221.2:c.715-2255C>A (BEST1)	XP_005274278.1:n.715-2255C>A
XM_011545229.1:c.1057C>A (BEST1)	XP_011543531.1:p.Gln353Lys
XM_011545230.1:c.964C>A (BEST1)	XP_011543532.1:p.Gln322Lys
XM_011545231.1:c.739C>A (BEST1)	XP_011543533.1:p.Gln247Lys
XM_011545232.1:c.1260C>A (BEST1)	XP_011543534.1:p.Pro420=
XM_011545233.1:c.214C>A (BEST1)	XP_011543535.1:p.Gln72Lys
NM_001363591.1:c.739C>A (BEST1)	NP_001350520.1:p.Gln247Lys
NM_001363592.1:c.1260C>A (BEST1)	NP_001350521.1:p.Pro420=
NM_001363593.1:c.85C>A (BEST1)	NP_001350522.1:p.Gln29Lys
NR_134580.1:n.1840C>A (BEST1)
XM_005274210.4:c.1057C>A (BEST1)	XP_005274267.1:p.Gln353Lys
XM_005274215.4:c.739C>A (BEST1)	XP_005274272.1:p.Gln247Lys
XM_005274216.4:c.1080C>A (BEST1)	XP_005274273.1:p.Pro360=
XM_005274219.4:c.867+1702C>A (BEST1)	XP_005274276.1:n.867+1702C>A
XM_005274221.4:c.715-2255C>A (BEST1)	XP_005274278.1:n.715-2255C>A
XM_011545229.3:c.1057C>A (BEST1)	XP_011543531.1:p.Gln353Lys
XM_011545230.3:c.964C>A (BEST1)	XP_011543532.1:p.Gln322Lys
XM_011545233.3:c.214C>A (BEST1)	XP_011543535.1:p.Gln72Lys
XM_017018230.2:c.942C>A (BEST1)	XP_016873719.1:p.Pro314=
XR_001747952.2:n.1758C>A (BEST1)
XR_001747953.2:n.1557+1702C>A (BEST1)
XR_001747954.2:n.1405-2255C>A (BEST1)
NM_004183.4:c.1057C>A (BEST1) MANE Select	NP_004174.1:p.Gln353Lys
NM_001139443.2:c.877C>A (BEST1)	NP_001132915.1:p.Gln293Lys
NM_001300786.2:c.796C>A (BEST1)	NP_001287715.1:p.Gln266Lys
NM_001300787.2:c.877C>A (BEST1)	NP_001287716.1:p.Gln293Lys
NM_001363591.2:c.739C>A (BEST1)	NP_001350520.1:p.Gln247Lys
NM_001363593.2:c.85C>A (BEST1)	NP_001350522.1:p.Gln29Lys
NR_134580.2:n.1373C>A (BEST1)