Canonical Allele Identifier: CA380846113

Gene: BEST1 FTH1

Linked Data

• MyVariant Identifiers: chr11:g.61727394C>T (hg19) ; chr11:g.61959922C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959922C>T , CM000673.2:g.61959922C>T	GRCh38
NC_000011.9:g.61727394C>T , CM000673.1:g.61727394C>T	GRCh37
NC_000011.8:g.61483970C>T	NCBI36
NG_009033.1:g.15039C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.979C>T (BEST1) MANE Select	ENSP00000367282.4:p.Gln327Ter
ENST00000378043.8:c.979C>T (BEST1)	ENSP00000367282.4:p.Gln327Ter
ENST00000449131.6:c.799C>T (BEST1)	ENSP00000399709.2:p.Gln267Ter
ENST00000524877.5:n.2610C>T (BEST1)
ENST00000524926.5:c.1182C>T (BEST1)	ENSP00000432681.1:p.Thr394=
ENST00000526988.1:c.864C>T (BEST1)	ENSP00000433195.1:p.Thr288=
ENST00000529191.5:c.120G>A (FTH1)	ENSP00000431659.1:p.Leu40=
ENST00000529631.5:c.115-18G>A (FTH1)	ENSP00000431575.1:n.115-18G>A
ENST00000530019.5:c.262-18G>A (FTH1)	ENSP00000433470.1:n.262-18G>A
ENST00000534553.5:c.164-2333C>T (BEST1)	ENSP00000431189.1:n.164-2333C>T
NM_001139443.1:c.799C>T (BEST1)	NP_001132915.1:p.Gln267Ter
NM_001300786.1:c.718C>T (BEST1)	NP_001287715.1:p.Gln240Ter
NM_001300787.1:c.799C>T (BEST1)	NP_001287716.1:p.Gln267Ter
NM_004183.3:c.979C>T (BEST1)	NP_004174.1:p.Gln327Ter
XM_005274210.2:c.979C>T (BEST1)	XP_005274267.1:p.Gln327Ter
XM_005274215.2:c.661C>T (BEST1)	XP_005274272.1:p.Gln221Ter
XM_005274216.2:c.1002C>T (BEST1)	XP_005274273.1:p.Thr334=
XM_005274218.3:c.864C>T (BEST1)	XP_005274275.1:p.Thr288=
XM_005274219.2:c.867+1624C>T (BEST1)	XP_005274276.1:n.867+1624C>T
XM_005274221.2:c.715-2333C>T (BEST1)	XP_005274278.1:n.715-2333C>T
XM_011545229.1:c.979C>T (BEST1)	XP_011543531.1:p.Gln327Ter
XM_011545230.1:c.886C>T (BEST1)	XP_011543532.1:p.Gln296Ter
XM_011545231.1:c.661C>T (BEST1)	XP_011543533.1:p.Gln221Ter
XM_011545232.1:c.1182C>T (BEST1)	XP_011543534.1:p.Thr394=
XM_011545233.1:c.136C>T (BEST1)	XP_011543535.1:p.Gln46Ter
NM_001363591.1:c.661C>T (BEST1)	NP_001350520.1:p.Gln221Ter
NM_001363592.1:c.1182C>T (BEST1)	NP_001350521.1:p.Thr394=
NM_001363593.1:c.7C>T (BEST1)	NP_001350522.1:p.Gln3Ter
NR_134580.1:n.1762C>T (BEST1)
XM_005274210.4:c.979C>T (BEST1)	XP_005274267.1:p.Gln327Ter
XM_005274215.4:c.661C>T (BEST1)	XP_005274272.1:p.Gln221Ter
XM_005274216.4:c.1002C>T (BEST1)	XP_005274273.1:p.Thr334=
XM_005274219.4:c.867+1624C>T (BEST1)	XP_005274276.1:n.867+1624C>T
XM_005274221.4:c.715-2333C>T (BEST1)	XP_005274278.1:n.715-2333C>T
XM_011545229.3:c.979C>T (BEST1)	XP_011543531.1:p.Gln327Ter
XM_011545230.3:c.886C>T (BEST1)	XP_011543532.1:p.Gln296Ter
XM_011545233.3:c.136C>T (BEST1)	XP_011543535.1:p.Gln46Ter
XM_017018230.2:c.864C>T (BEST1)	XP_016873719.1:p.Thr288=
XR_001747952.2:n.1680C>T (BEST1)
XR_001747953.2:n.1557+1624C>T (BEST1)
XR_001747954.2:n.1405-2333C>T (BEST1)
XR_001748245.1:n.6G>A
XR_002957249.1:n.6G>A
NM_004183.4:c.979C>T (BEST1) MANE Select	NP_004174.1:p.Gln327Ter
NM_001139443.2:c.799C>T (BEST1)	NP_001132915.1:p.Gln267Ter
NM_001300786.2:c.718C>T (BEST1)	NP_001287715.1:p.Gln240Ter
NM_001300787.2:c.799C>T (BEST1)	NP_001287716.1:p.Gln267Ter
NM_001363591.2:c.661C>T (BEST1)	NP_001350520.1:p.Gln221Ter
NM_001363593.2:c.7C>T (BEST1)	NP_001350522.1:p.Gln3Ter
NR_134580.2:n.1295C>T (BEST1)