Canonical Allele Identifier: CA380846451

Gene: BEST1 FTH1

Linked Data

• gnomAD v4: 11-61960035-C-A
• MyVariant Identifiers: chr11:g.61727507C>A (hg19) ; chr11:g.61960035C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61960035C>A , CM000673.2:g.61960035C>A	GRCh38
NC_000011.9:g.61727507C>A , CM000673.1:g.61727507C>A	GRCh37
NC_000011.8:g.61484083C>A	NCBI36
NG_009033.1:g.15152C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.1092C>A (BEST1) MANE Select	ENSP00000367282.4:p.Phe364Leu
ENST00000378043.8:c.1092C>A (BEST1)	ENSP00000367282.4:p.Phe364Leu
ENST00000449131.6:c.912C>A (BEST1)	ENSP00000399709.2:p.Phe304Leu
ENST00000524877.5:n.2723C>A (BEST1)
ENST00000524926.5:c.1295C>A (BEST1)	ENSP00000432681.1:p.Ser432Ter
ENST00000526988.1:c.977C>A (BEST1)	ENSP00000433195.1:p.Ser326Ter
ENST00000529191.5:c.115-108G>T (FTH1)	ENSP00000431659.1:n.115-108G>T
ENST00000529631.5:c.115-131G>T (FTH1)	ENSP00000431575.1:n.115-131G>T
ENST00000530019.5:c.262-131G>T (FTH1)	ENSP00000433470.1:n.262-131G>T
ENST00000534553.5:c.164-2220C>A (BEST1)	ENSP00000431189.1:n.164-2220C>A
NM_001139443.1:c.912C>A (BEST1)	NP_001132915.1:p.Phe304Leu
NM_001300786.1:c.831C>A (BEST1)	NP_001287715.1:p.Phe277Leu
NM_001300787.1:c.912C>A (BEST1)	NP_001287716.1:p.Phe304Leu
NM_004183.3:c.1092C>A (BEST1)	NP_004174.1:p.Phe364Leu
XM_005274210.2:c.1092C>A (BEST1)	XP_005274267.1:p.Phe364Leu
XM_005274215.2:c.774C>A (BEST1)	XP_005274272.1:p.Phe258Leu
XM_005274216.2:c.1115C>A (BEST1)	XP_005274273.1:p.Ser372Ter
XM_005274218.3:c.977C>A (BEST1)	XP_005274275.1:p.Ser326Ter
XM_005274219.2:c.867+1737C>A (BEST1)	XP_005274276.1:n.867+1737C>A
XM_005274221.2:c.715-2220C>A (BEST1)	XP_005274278.1:n.715-2220C>A
XM_011545229.1:c.1092C>A (BEST1)	XP_011543531.1:p.Phe364Leu
XM_011545230.1:c.999C>A (BEST1)	XP_011543532.1:p.Phe333Leu
XM_011545231.1:c.774C>A (BEST1)	XP_011543533.1:p.Phe258Leu
XM_011545232.1:c.1295C>A (BEST1)	XP_011543534.1:p.Ser432Ter
XM_011545233.1:c.249C>A (BEST1)	XP_011543535.1:p.Phe83Leu
NM_001363591.1:c.774C>A (BEST1)	NP_001350520.1:p.Phe258Leu
NM_001363592.1:c.1295C>A (BEST1)	NP_001350521.1:p.Ser432Ter
NM_001363593.1:c.120C>A (BEST1)	NP_001350522.1:p.Phe40Leu
NR_134580.1:n.1875C>A (BEST1)
XM_005274210.4:c.1092C>A (BEST1)	XP_005274267.1:p.Phe364Leu
XM_005274215.4:c.774C>A (BEST1)	XP_005274272.1:p.Phe258Leu
XM_005274216.4:c.1115C>A (BEST1)	XP_005274273.1:p.Ser372Ter
XM_005274219.4:c.867+1737C>A (BEST1)	XP_005274276.1:n.867+1737C>A
XM_005274221.4:c.715-2220C>A (BEST1)	XP_005274278.1:n.715-2220C>A
XM_011545229.3:c.1092C>A (BEST1)	XP_011543531.1:p.Phe364Leu
XM_011545230.3:c.999C>A (BEST1)	XP_011543532.1:p.Phe333Leu
XM_011545233.3:c.249C>A (BEST1)	XP_011543535.1:p.Phe83Leu
XM_017018230.2:c.977C>A (BEST1)	XP_016873719.1:p.Ser326Ter
XR_001747952.2:n.1793C>A (BEST1)
XR_001747953.2:n.1557+1737C>A (BEST1)
XR_001747954.2:n.1405-2220C>A (BEST1)
NM_004183.4:c.1092C>A (BEST1) MANE Select	NP_004174.1:p.Phe364Leu
NM_001139443.2:c.912C>A (BEST1)	NP_001132915.1:p.Phe304Leu
NM_001300786.2:c.831C>A (BEST1)	NP_001287715.1:p.Phe277Leu
NM_001300787.2:c.912C>A (BEST1)	NP_001287716.1:p.Phe304Leu
NM_001363591.2:c.774C>A (BEST1)	NP_001350520.1:p.Phe258Leu
NM_001363593.2:c.120C>A (BEST1)	NP_001350522.1:p.Phe40Leu
NR_134580.2:n.1408C>A (BEST1)