Canonical Allele Identifier: CA380846085

Gene: BEST1 FTH1

Linked Data

• gnomAD v4: 11-61959912-T-G
• MyVariant Identifiers: chr11:g.61727384T>G (hg19) ; chr11:g.61959912T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959912T>G , CM000673.2:g.61959912T>G	GRCh38
NC_000011.9:g.61727384T>G , CM000673.1:g.61727384T>G	GRCh37
NC_000011.8:g.61483960T>G	NCBI36
NG_009033.1:g.15029T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.969T>G (BEST1) MANE Select	ENSP00000367282.4:p.Asp323Glu
ENST00000378043.8:c.969T>G (BEST1)	ENSP00000367282.4:p.Asp323Glu
ENST00000449131.6:c.789T>G (BEST1)	ENSP00000399709.2:p.Asp263Glu
ENST00000524877.5:n.2600T>G (BEST1)
ENST00000524926.5:c.1172T>G (BEST1)	ENSP00000432681.1:p.Met391Arg
ENST00000526988.1:c.854T>G (BEST1)	ENSP00000433195.1:p.Met285Arg
ENST00000529191.5:c.130A>C (FTH1)	ENSP00000431659.1:p.Ile44Leu
ENST00000529631.5:c.115-8A>C (FTH1)	ENSP00000431575.1:n.115-8A>C
ENST00000530019.5:c.262-8A>C (FTH1)	ENSP00000433470.1:n.262-8A>C
ENST00000534553.5:c.164-2343T>G (BEST1)	ENSP00000431189.1:n.164-2343T>G
NM_001139443.1:c.789T>G (BEST1)	NP_001132915.1:p.Asp263Glu
NM_001300786.1:c.708T>G (BEST1)	NP_001287715.1:p.Asp236Glu
NM_001300787.1:c.789T>G (BEST1)	NP_001287716.1:p.Asp263Glu
NM_004183.3:c.969T>G (BEST1)	NP_004174.1:p.Asp323Glu
XM_005274210.2:c.969T>G (BEST1)	XP_005274267.1:p.Asp323Glu
XM_005274215.2:c.651T>G (BEST1)	XP_005274272.1:p.Asp217Glu
XM_005274216.2:c.992T>G (BEST1)	XP_005274273.1:p.Met331Arg
XM_005274218.3:c.854T>G (BEST1)	XP_005274275.1:p.Met285Arg
XM_005274219.2:c.867+1614T>G (BEST1)	XP_005274276.1:n.867+1614T>G
XM_005274221.2:c.715-2343T>G (BEST1)	XP_005274278.1:n.715-2343T>G
XM_011545229.1:c.969T>G (BEST1)	XP_011543531.1:p.Asp323Glu
XM_011545230.1:c.876T>G (BEST1)	XP_011543532.1:p.Asp292Glu
XM_011545231.1:c.651T>G (BEST1)	XP_011543533.1:p.Asp217Glu
XM_011545232.1:c.1172T>G (BEST1)	XP_011543534.1:p.Met391Arg
XM_011545233.1:c.126T>G (BEST1)	XP_011543535.1:p.Asp42Glu
NM_001363591.1:c.651T>G (BEST1)	NP_001350520.1:p.Asp217Glu
NM_001363592.1:c.1172T>G (BEST1)	NP_001350521.1:p.Met391Arg
NM_001363593.1:c.-4T>G (BEST1)	NP_001350522.1:n.-4T>G
NR_134580.1:n.1752T>G (BEST1)
XM_005274210.4:c.969T>G (BEST1)	XP_005274267.1:p.Asp323Glu
XM_005274215.4:c.651T>G (BEST1)	XP_005274272.1:p.Asp217Glu
XM_005274216.4:c.992T>G (BEST1)	XP_005274273.1:p.Met331Arg
XM_005274219.4:c.867+1614T>G (BEST1)	XP_005274276.1:n.867+1614T>G
XM_005274221.4:c.715-2343T>G (BEST1)	XP_005274278.1:n.715-2343T>G
XM_011545229.3:c.969T>G (BEST1)	XP_011543531.1:p.Asp323Glu
XM_011545230.3:c.876T>G (BEST1)	XP_011543532.1:p.Asp292Glu
XM_011545233.3:c.126T>G (BEST1)	XP_011543535.1:p.Asp42Glu
XM_017018230.2:c.854T>G (BEST1)	XP_016873719.1:p.Met285Arg
XR_001747952.2:n.1670T>G (BEST1)
XR_001747953.2:n.1557+1614T>G (BEST1)
XR_001747954.2:n.1405-2343T>G (BEST1)
XR_001748245.1:n.16A>C
XR_002957249.1:n.16A>C
NM_004183.4:c.969T>G (BEST1) MANE Select	NP_004174.1:p.Asp323Glu
NM_001139443.2:c.789T>G (BEST1)	NP_001132915.1:p.Asp263Glu
NM_001300786.2:c.708T>G (BEST1)	NP_001287715.1:p.Asp236Glu
NM_001300787.2:c.789T>G (BEST1)	NP_001287716.1:p.Asp263Glu
NM_001363591.2:c.651T>G (BEST1)	NP_001350520.1:p.Asp217Glu
NM_001363593.2:c.-4T>G (BEST1)	NP_001350522.1:n.-4T>G
NR_134580.2:n.1285T>G (BEST1)