Canonical Allele Identifier: CA380846430

Gene: BEST1 FTH1

Linked Data

• MyVariant Identifiers: chr11:g.61727503C>T (hg19) ; chr11:g.61960031C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61960031C>T , CM000673.2:g.61960031C>T	GRCh38
NC_000011.9:g.61727503C>T , CM000673.1:g.61727503C>T	GRCh37
NC_000011.8:g.61484079C>T	NCBI36
NG_009033.1:g.15148C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.1088C>T (BEST1) MANE Select	ENSP00000367282.4:p.Thr363Ile
ENST00000378043.8:c.1088C>T (BEST1)	ENSP00000367282.4:p.Thr363Ile
ENST00000449131.6:c.908C>T (BEST1)	ENSP00000399709.2:p.Thr303Ile
ENST00000524877.5:n.2719C>T (BEST1)
ENST00000524926.5:c.1291C>T (BEST1)	ENSP00000432681.1:p.Pro431Ser
ENST00000526988.1:c.973C>T (BEST1)	ENSP00000433195.1:p.Pro325Ser
ENST00000529191.5:c.115-104G>A (FTH1)	ENSP00000431659.1:n.115-104G>A
ENST00000529631.5:c.115-127G>A (FTH1)	ENSP00000431575.1:n.115-127G>A
ENST00000530019.5:c.262-127G>A (FTH1)	ENSP00000433470.1:n.262-127G>A
ENST00000534553.5:c.164-2224C>T (BEST1)	ENSP00000431189.1:n.164-2224C>T
NM_001139443.1:c.908C>T (BEST1)	NP_001132915.1:p.Thr303Ile
NM_001300786.1:c.827C>T (BEST1)	NP_001287715.1:p.Thr276Ile
NM_001300787.1:c.908C>T (BEST1)	NP_001287716.1:p.Thr303Ile
NM_004183.3:c.1088C>T (BEST1)	NP_004174.1:p.Thr363Ile
XM_005274210.2:c.1088C>T (BEST1)	XP_005274267.1:p.Thr363Ile
XM_005274215.2:c.770C>T (BEST1)	XP_005274272.1:p.Thr257Ile
XM_005274216.2:c.1111C>T (BEST1)	XP_005274273.1:p.Pro371Ser
XM_005274218.3:c.973C>T (BEST1)	XP_005274275.1:p.Pro325Ser
XM_005274219.2:c.867+1733C>T (BEST1)	XP_005274276.1:n.867+1733C>T
XM_005274221.2:c.715-2224C>T (BEST1)	XP_005274278.1:n.715-2224C>T
XM_011545229.1:c.1088C>T (BEST1)	XP_011543531.1:p.Thr363Ile
XM_011545230.1:c.995C>T (BEST1)	XP_011543532.1:p.Thr332Ile
XM_011545231.1:c.770C>T (BEST1)	XP_011543533.1:p.Thr257Ile
XM_011545232.1:c.1291C>T (BEST1)	XP_011543534.1:p.Pro431Ser
XM_011545233.1:c.245C>T (BEST1)	XP_011543535.1:p.Thr82Ile
NM_001363591.1:c.770C>T (BEST1)	NP_001350520.1:p.Thr257Ile
NM_001363592.1:c.1291C>T (BEST1)	NP_001350521.1:p.Pro431Ser
NM_001363593.1:c.116C>T (BEST1)	NP_001350522.1:p.Thr39Ile
NR_134580.1:n.1871C>T (BEST1)
XM_005274210.4:c.1088C>T (BEST1)	XP_005274267.1:p.Thr363Ile
XM_005274215.4:c.770C>T (BEST1)	XP_005274272.1:p.Thr257Ile
XM_005274216.4:c.1111C>T (BEST1)	XP_005274273.1:p.Pro371Ser
XM_005274219.4:c.867+1733C>T (BEST1)	XP_005274276.1:n.867+1733C>T
XM_005274221.4:c.715-2224C>T (BEST1)	XP_005274278.1:n.715-2224C>T
XM_011545229.3:c.1088C>T (BEST1)	XP_011543531.1:p.Thr363Ile
XM_011545230.3:c.995C>T (BEST1)	XP_011543532.1:p.Thr332Ile
XM_011545233.3:c.245C>T (BEST1)	XP_011543535.1:p.Thr82Ile
XM_017018230.2:c.973C>T (BEST1)	XP_016873719.1:p.Pro325Ser
XR_001747952.2:n.1789C>T (BEST1)
XR_001747953.2:n.1557+1733C>T (BEST1)
XR_001747954.2:n.1405-2224C>T (BEST1)
NM_004183.4:c.1088C>T (BEST1) MANE Select	NP_004174.1:p.Thr363Ile
NM_001139443.2:c.908C>T (BEST1)	NP_001132915.1:p.Thr303Ile
NM_001300786.2:c.827C>T (BEST1)	NP_001287715.1:p.Thr276Ile
NM_001300787.2:c.908C>T (BEST1)	NP_001287716.1:p.Thr303Ile
NM_001363591.2:c.770C>T (BEST1)	NP_001350520.1:p.Thr257Ile
NM_001363593.2:c.116C>T (BEST1)	NP_001350522.1:p.Thr39Ile
NR_134580.2:n.1404C>T (BEST1)