Canonical Allele Identifier: CA222939941

Gene: BEST1 FTH1

Linked Data

• dbSNP Id: rs1045042331
• gnomAD v2: 11-61727448-C-A
• gnomAD v4: 11-61959976-C-A
• MyVariant Identifiers: chr11:g.61727448C>A (hg19) ; chr11:g.61959976C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959976C>A , CM000673.2:g.61959976C>A	GRCh38
NC_000011.9:g.61727448C>A , CM000673.1:g.61727448C>A	GRCh37
NC_000011.8:g.61484024C>A	NCBI36
NG_009033.1:g.15093C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.1033C>A (BEST1) MANE Select	ENSP00000367282.4:p.Pro345Thr
ENST00000378043.8:c.1033C>A (BEST1)	ENSP00000367282.4:p.Pro345Thr
ENST00000449131.6:c.853C>A (BEST1)	ENSP00000399709.2:p.Pro285Thr
ENST00000524877.5:n.2664C>A (BEST1)
ENST00000524926.5:c.1236C>A (BEST1)	ENSP00000432681.1:p.Ser412Arg
ENST00000526988.1:c.918C>A (BEST1)	ENSP00000433195.1:p.Ser306Arg
ENST00000529191.5:c.115-49G>T (FTH1)	ENSP00000431659.1:n.115-49G>T
ENST00000529631.5:c.115-72G>T (FTH1)	ENSP00000431575.1:n.115-72G>T
ENST00000530019.5:c.262-72G>T (FTH1)	ENSP00000433470.1:n.262-72G>T
ENST00000534553.5:c.164-2279C>A (BEST1)	ENSP00000431189.1:n.164-2279C>A
NM_001139443.1:c.853C>A (BEST1)	NP_001132915.1:p.Pro285Thr
NM_001300786.1:c.772C>A (BEST1)	NP_001287715.1:p.Pro258Thr
NM_001300787.1:c.853C>A (BEST1)	NP_001287716.1:p.Pro285Thr
NM_004183.3:c.1033C>A (BEST1)	NP_004174.1:p.Pro345Thr
XM_005274210.2:c.1033C>A (BEST1)	XP_005274267.1:p.Pro345Thr
XM_005274215.2:c.715C>A (BEST1)	XP_005274272.1:p.Pro239Thr
XM_005274216.2:c.1056C>A (BEST1)	XP_005274273.1:p.Ser352Arg
XM_005274218.3:c.918C>A (BEST1)	XP_005274275.1:p.Ser306Arg
XM_005274219.2:c.867+1678C>A (BEST1)	XP_005274276.1:n.867+1678C>A
XM_005274221.2:c.715-2279C>A (BEST1)	XP_005274278.1:n.715-2279C>A
XM_011545229.1:c.1033C>A (BEST1)	XP_011543531.1:p.Pro345Thr
XM_011545230.1:c.940C>A (BEST1)	XP_011543532.1:p.Pro314Thr
XM_011545231.1:c.715C>A (BEST1)	XP_011543533.1:p.Pro239Thr
XM_011545232.1:c.1236C>A (BEST1)	XP_011543534.1:p.Ser412Arg
XM_011545233.1:c.190C>A (BEST1)	XP_011543535.1:p.Pro64Thr
NM_001363591.1:c.715C>A (BEST1)	NP_001350520.1:p.Pro239Thr
NM_001363592.1:c.1236C>A (BEST1)	NP_001350521.1:p.Ser412Arg
NM_001363593.1:c.61C>A (BEST1)	NP_001350522.1:p.Pro21Thr
NR_134580.1:n.1816C>A (BEST1)
XM_005274210.4:c.1033C>A (BEST1)	XP_005274267.1:p.Pro345Thr
XM_005274215.4:c.715C>A (BEST1)	XP_005274272.1:p.Pro239Thr
XM_005274216.4:c.1056C>A (BEST1)	XP_005274273.1:p.Ser352Arg
XM_005274219.4:c.867+1678C>A (BEST1)	XP_005274276.1:n.867+1678C>A
XM_005274221.4:c.715-2279C>A (BEST1)	XP_005274278.1:n.715-2279C>A
XM_011545229.3:c.1033C>A (BEST1)	XP_011543531.1:p.Pro345Thr
XM_011545230.3:c.940C>A (BEST1)	XP_011543532.1:p.Pro314Thr
XM_011545233.3:c.190C>A (BEST1)	XP_011543535.1:p.Pro64Thr
XM_017018230.2:c.918C>A (BEST1)	XP_016873719.1:p.Ser306Arg
XR_001747952.2:n.1734C>A (BEST1)
XR_001747953.2:n.1557+1678C>A (BEST1)
XR_001747954.2:n.1405-2279C>A (BEST1)
NM_004183.4:c.1033C>A (BEST1) MANE Select	NP_004174.1:p.Pro345Thr
NM_001139443.2:c.853C>A (BEST1)	NP_001132915.1:p.Pro285Thr
NM_001300786.2:c.772C>A (BEST1)	NP_001287715.1:p.Pro258Thr
NM_001300787.2:c.853C>A (BEST1)	NP_001287716.1:p.Pro285Thr
NM_001363591.2:c.715C>A (BEST1)	NP_001350520.1:p.Pro239Thr
NM_001363593.2:c.61C>A (BEST1)	NP_001350522.1:p.Pro21Thr
NR_134580.2:n.1349C>A (BEST1)