Canonical Allele Identifier: CA2613927146

Gene: BEST1 FTH1

Linked Data

• gnomAD v4: 11-61960100-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61960100T>C , CM000673.2:g.61960100T>C	GRCh38
NC_000011.9:g.61727572T>C , CM000673.1:g.61727572T>C	GRCh37
NC_000011.8:g.61484148T>C	NCBI36
NG_009033.1:g.15217T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.1100+57T>C (BEST1) MANE Select	ENSP00000367282.4:n.1100+57T>C
ENST00000378043.8:c.1100+57T>C (BEST1)	ENSP00000367282.4:n.1100+57T>C
ENST00000449131.6:c.920+57T>C (BEST1)	ENSP00000399709.2:n.920+57T>C
ENST00000524877.5:n.2788T>C (BEST1)
ENST00000524926.5:c.1303+57T>C (BEST1)	ENSP00000432681.1:n.1303+57T>C
ENST00000526988.1:c.985+57T>C (BEST1)	ENSP00000433195.1:n.985+57T>C
ENST00000529191.5:c.115-173A>G (FTH1)	ENSP00000431659.1:n.115-173A>G
ENST00000529631.5:c.115-196A>G (FTH1)	ENSP00000431575.1:n.115-196A>G
ENST00000530019.5:c.262-196A>G (FTH1)	ENSP00000433470.1:n.262-196A>G
ENST00000534553.5:c.164-2155T>C (BEST1)	ENSP00000431189.1:n.164-2155T>C
NM_001139443.1:c.920+57T>C (BEST1)	NP_001132915.1:n.920+57T>C
NM_001300786.1:c.839+57T>C (BEST1)	NP_001287715.1:n.839+57T>C
NM_001300787.1:c.920+57T>C (BEST1)	NP_001287716.1:n.920+57T>C
NM_004183.3:c.1100+57T>C (BEST1)	NP_004174.1:n.1100+57T>C
XM_005274210.2:c.1100+57T>C (BEST1)	XP_005274267.1:n.1100+57T>C
XM_005274215.2:c.782+57T>C (BEST1)	XP_005274272.1:n.782+57T>C
XM_005274216.2:c.1123+57T>C (BEST1)	XP_005274273.1:n.1123+57T>C
XM_005274218.3:c.985+57T>C (BEST1)	XP_005274275.1:n.985+57T>C
XM_005274219.2:c.867+1802T>C (BEST1)	XP_005274276.1:n.867+1802T>C
XM_005274221.2:c.715-2155T>C (BEST1)	XP_005274278.1:n.715-2155T>C
XM_011545229.1:c.1100+57T>C (BEST1)	XP_011543531.1:n.1100+57T>C
XM_011545230.1:c.1007+57T>C (BEST1)	XP_011543532.1:n.1007+57T>C
XM_011545231.1:c.782+57T>C (BEST1)	XP_011543533.1:n.782+57T>C
XM_011545232.1:c.1303+57T>C (BEST1)	XP_011543534.1:n.1303+57T>C
XM_011545233.1:c.257+57T>C (BEST1)	XP_011543535.1:n.257+57T>C
NM_001363591.1:c.782+57T>C (BEST1)	NP_001350520.1:n.782+57T>C
NM_001363592.1:c.1303+57T>C (BEST1)	NP_001350521.1:n.1303+57T>C
NM_001363593.1:c.128+57T>C (BEST1)	NP_001350522.1:n.128+57T>C
NR_134580.1:n.1883+57T>C (BEST1)
XM_005274210.4:c.1100+57T>C (BEST1)	XP_005274267.1:n.1100+57T>C
XM_005274215.4:c.782+57T>C (BEST1)	XP_005274272.1:n.782+57T>C
XM_005274216.4:c.1123+57T>C (BEST1)	XP_005274273.1:n.1123+57T>C
XM_005274219.4:c.867+1802T>C (BEST1)	XP_005274276.1:n.867+1802T>C
XM_005274221.4:c.715-2155T>C (BEST1)	XP_005274278.1:n.715-2155T>C
XM_011545229.3:c.1100+57T>C (BEST1)	XP_011543531.1:n.1100+57T>C
XM_011545230.3:c.1007+57T>C (BEST1)	XP_011543532.1:n.1007+57T>C
XM_011545233.3:c.257+57T>C (BEST1)	XP_011543535.1:n.257+57T>C
XM_017018230.2:c.985+57T>C (BEST1)	XP_016873719.1:n.985+57T>C
XR_001747952.2:n.1801+57T>C (BEST1)
XR_001747953.2:n.1557+1802T>C (BEST1)
XR_001747954.2:n.1405-2155T>C (BEST1)
NM_004183.4:c.1100+57T>C (BEST1) MANE Select	NP_004174.1:n.1100+57T>C
NM_001139443.2:c.920+57T>C (BEST1)	NP_001132915.1:n.920+57T>C
NM_001300786.2:c.839+57T>C (BEST1)	NP_001287715.1:n.839+57T>C
NM_001300787.2:c.920+57T>C (BEST1)	NP_001287716.1:n.920+57T>C
NM_001363591.2:c.782+57T>C (BEST1)	NP_001350520.1:n.782+57T>C
NM_001363593.2:c.128+57T>C (BEST1)	NP_001350522.1:n.128+57T>C
NR_134580.2:n.1416+57T>C (BEST1)