Canonical Allele Identifier: CA2613927131

Gene: BEST1 FTH1

Linked Data

• gnomAD v4: 11-61960091-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61960091G>T , CM000673.2:g.61960091G>T	GRCh38
NC_000011.9:g.61727563G>T , CM000673.1:g.61727563G>T	GRCh37
NC_000011.8:g.61484139G>T	NCBI36
NG_009033.1:g.15208G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.1100+48G>T (BEST1) MANE Select	ENSP00000367282.4:n.1100+48G>T
ENST00000378043.8:c.1100+48G>T (BEST1)	ENSP00000367282.4:n.1100+48G>T
ENST00000449131.6:c.920+48G>T (BEST1)	ENSP00000399709.2:n.920+48G>T
ENST00000524877.5:n.2779G>T (BEST1)
ENST00000524926.5:c.1303+48G>T (BEST1)	ENSP00000432681.1:n.1303+48G>T
ENST00000526988.1:c.985+48G>T (BEST1)	ENSP00000433195.1:n.985+48G>T
ENST00000529191.5:c.115-164C>A (FTH1)	ENSP00000431659.1:n.115-164C>A
ENST00000529631.5:c.115-187C>A (FTH1)	ENSP00000431575.1:n.115-187C>A
ENST00000530019.5:c.262-187C>A (FTH1)	ENSP00000433470.1:n.262-187C>A
ENST00000534553.5:c.164-2164G>T (BEST1)	ENSP00000431189.1:n.164-2164G>T
NM_001139443.1:c.920+48G>T (BEST1)	NP_001132915.1:n.920+48G>T
NM_001300786.1:c.839+48G>T (BEST1)	NP_001287715.1:n.839+48G>T
NM_001300787.1:c.920+48G>T (BEST1)	NP_001287716.1:n.920+48G>T
NM_004183.3:c.1100+48G>T (BEST1)	NP_004174.1:n.1100+48G>T
XM_005274210.2:c.1100+48G>T (BEST1)	XP_005274267.1:n.1100+48G>T
XM_005274215.2:c.782+48G>T (BEST1)	XP_005274272.1:n.782+48G>T
XM_005274216.2:c.1123+48G>T (BEST1)	XP_005274273.1:n.1123+48G>T
XM_005274218.3:c.985+48G>T (BEST1)	XP_005274275.1:n.985+48G>T
XM_005274219.2:c.867+1793G>T (BEST1)	XP_005274276.1:n.867+1793G>T
XM_005274221.2:c.715-2164G>T (BEST1)	XP_005274278.1:n.715-2164G>T
XM_011545229.1:c.1100+48G>T (BEST1)	XP_011543531.1:n.1100+48G>T
XM_011545230.1:c.1007+48G>T (BEST1)	XP_011543532.1:n.1007+48G>T
XM_011545231.1:c.782+48G>T (BEST1)	XP_011543533.1:n.782+48G>T
XM_011545232.1:c.1303+48G>T (BEST1)	XP_011543534.1:n.1303+48G>T
XM_011545233.1:c.257+48G>T (BEST1)	XP_011543535.1:n.257+48G>T
NM_001363591.1:c.782+48G>T (BEST1)	NP_001350520.1:n.782+48G>T
NM_001363592.1:c.1303+48G>T (BEST1)	NP_001350521.1:n.1303+48G>T
NM_001363593.1:c.128+48G>T (BEST1)	NP_001350522.1:n.128+48G>T
NR_134580.1:n.1883+48G>T (BEST1)
XM_005274210.4:c.1100+48G>T (BEST1)	XP_005274267.1:n.1100+48G>T
XM_005274215.4:c.782+48G>T (BEST1)	XP_005274272.1:n.782+48G>T
XM_005274216.4:c.1123+48G>T (BEST1)	XP_005274273.1:n.1123+48G>T
XM_005274219.4:c.867+1793G>T (BEST1)	XP_005274276.1:n.867+1793G>T
XM_005274221.4:c.715-2164G>T (BEST1)	XP_005274278.1:n.715-2164G>T
XM_011545229.3:c.1100+48G>T (BEST1)	XP_011543531.1:n.1100+48G>T
XM_011545230.3:c.1007+48G>T (BEST1)	XP_011543532.1:n.1007+48G>T
XM_011545233.3:c.257+48G>T (BEST1)	XP_011543535.1:n.257+48G>T
XM_017018230.2:c.985+48G>T (BEST1)	XP_016873719.1:n.985+48G>T
XR_001747952.2:n.1801+48G>T (BEST1)
XR_001747953.2:n.1557+1793G>T (BEST1)
XR_001747954.2:n.1405-2164G>T (BEST1)
NM_004183.4:c.1100+48G>T (BEST1) MANE Select	NP_004174.1:n.1100+48G>T
NM_001139443.2:c.920+48G>T (BEST1)	NP_001132915.1:n.920+48G>T
NM_001300786.2:c.839+48G>T (BEST1)	NP_001287715.1:n.839+48G>T
NM_001300787.2:c.920+48G>T (BEST1)	NP_001287716.1:n.920+48G>T
NM_001363591.2:c.782+48G>T (BEST1)	NP_001350520.1:n.782+48G>T
NM_001363593.2:c.128+48G>T (BEST1)	NP_001350522.1:n.128+48G>T
NR_134580.2:n.1416+48G>T (BEST1)