Canonical Allele Identifier: CA380846043

Gene: BEST1 FTH1

Linked Data

• MyVariant Identifiers: chr11:g.61727369C>T (hg19) ; chr11:g.61959897C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959897C>T , CM000673.2:g.61959897C>T	GRCh38
NC_000011.9:g.61727369C>T , CM000673.1:g.61727369C>T	GRCh37
NC_000011.8:g.61483945C>T	NCBI36
NG_009033.1:g.15014C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000378043.9:c.954C>T (BEST1) MANE Select	ENSP00000367282.4:p.Ser318=
ENST00000378043.8:c.954C>T (BEST1)	ENSP00000367282.4:p.Ser318=
ENST00000449131.6:c.774C>T (BEST1)	ENSP00000399709.2:p.Ser258=
ENST00000524877.5:n.2585C>T (BEST1)
ENST00000524926.5:c.1157C>T (BEST1)	ENSP00000432681.1:p.Pro386Leu
ENST00000526988.1:c.839C>T (BEST1)	ENSP00000433195.1:p.Pro280Leu
ENST00000529191.5:c.145G>A (FTH1)	ENSP00000431659.1:p.Gly49Arg
ENST00000529631.5:c.122G>A (FTH1)	ENSP00000431575.1:p.Gly41Glu
ENST00000530019.5:c.269G>A (FTH1)	ENSP00000433470.1:p.Gly90Glu
ENST00000534553.5:c.164-2358C>T (BEST1)	ENSP00000431189.1:n.164-2358C>T
NM_001139443.1:c.774C>T (BEST1)	NP_001132915.1:p.Ser258=
NM_001300786.1:c.693C>T (BEST1)	NP_001287715.1:p.Ser231=
NM_001300787.1:c.774C>T (BEST1)	NP_001287716.1:p.Ser258=
NM_004183.3:c.954C>T (BEST1)	NP_004174.1:p.Ser318=
XM_005274210.2:c.954C>T (BEST1)	XP_005274267.1:p.Ser318=
XM_005274215.2:c.636C>T (BEST1)	XP_005274272.1:p.Ser212=
XM_005274216.2:c.977C>T (BEST1)	XP_005274273.1:p.Pro326Leu
XM_005274218.3:c.839C>T (BEST1)	XP_005274275.1:p.Pro280Leu
XM_005274219.2:c.867+1599C>T (BEST1)	XP_005274276.1:n.867+1599C>T
XM_005274221.2:c.715-2358C>T (BEST1)	XP_005274278.1:n.715-2358C>T
XM_011545229.1:c.954C>T (BEST1)	XP_011543531.1:p.Ser318=
XM_011545230.1:c.861C>T (BEST1)	XP_011543532.1:p.Ser287=
XM_011545231.1:c.636C>T (BEST1)	XP_011543533.1:p.Ser212=
XM_011545232.1:c.1157C>T (BEST1)	XP_011543534.1:p.Pro386Leu
XM_011545233.1:c.111C>T (BEST1)	XP_011543535.1:p.Ser37=
NM_001363591.1:c.636C>T (BEST1)	NP_001350520.1:p.Ser212=
NM_001363592.1:c.1157C>T (BEST1)	NP_001350521.1:p.Pro386Leu
NM_001363593.1:c.-19C>T (BEST1)	NP_001350522.1:n.-19C>T
NR_134580.1:n.1737C>T (BEST1)
XM_005274210.4:c.954C>T (BEST1)	XP_005274267.1:p.Ser318=
XM_005274215.4:c.636C>T (BEST1)	XP_005274272.1:p.Ser212=
XM_005274216.4:c.977C>T (BEST1)	XP_005274273.1:p.Pro326Leu
XM_005274219.4:c.867+1599C>T (BEST1)	XP_005274276.1:n.867+1599C>T
XM_005274221.4:c.715-2358C>T (BEST1)	XP_005274278.1:n.715-2358C>T
XM_011545229.3:c.954C>T (BEST1)	XP_011543531.1:p.Ser318=
XM_011545230.3:c.861C>T (BEST1)	XP_011543532.1:p.Ser287=
XM_011545233.3:c.111C>T (BEST1)	XP_011543535.1:p.Ser37=
XM_017018230.2:c.839C>T (BEST1)	XP_016873719.1:p.Pro280Leu
XR_001747952.2:n.1655C>T (BEST1)
XR_001747953.2:n.1557+1599C>T (BEST1)
XR_001747954.2:n.1405-2358C>T (BEST1)
XR_001748245.1:n.31G>A
XR_002957249.1:n.31G>A
NM_004183.4:c.954C>T (BEST1) MANE Select	NP_004174.1:p.Ser318=
NM_001139443.2:c.774C>T (BEST1)	NP_001132915.1:p.Ser258=
NM_001300786.2:c.693C>T (BEST1)	NP_001287715.1:p.Ser231=
NM_001300787.2:c.774C>T (BEST1)	NP_001287716.1:p.Ser258=
NM_001363591.2:c.636C>T (BEST1)	NP_001350520.1:p.Ser212=
NM_001363593.2:c.-19C>T (BEST1)	NP_001350522.1:n.-19C>T
NR_134580.2:n.1270C>T (BEST1)