Canonical Allele Identifier: CA380846197

Gene: BEST1 FTH1

Linked Data

• MyVariant Identifiers: chr11:g.61727426C>G (hg19) ; chr11:g.61959954C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959954C>G , CM000673.2:g.61959954C>G	GRCh38
NC_000011.9:g.61727426C>G , CM000673.1:g.61727426C>G	GRCh37
NC_000011.8:g.61484002C>G	NCBI36
NG_009033.1:g.15071C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.1011C>G (BEST1) MANE Select	ENSP00000367282.4:p.Tyr337Ter
ENST00000378043.8:c.1011C>G (BEST1)	ENSP00000367282.4:p.Tyr337Ter
ENST00000449131.6:c.831C>G (BEST1)	ENSP00000399709.2:p.Tyr277Ter
ENST00000524877.5:n.2642C>G (BEST1)
ENST00000524926.5:c.1214C>G (BEST1)	ENSP00000432681.1:p.Thr405Ser
ENST00000526988.1:c.896C>G (BEST1)	ENSP00000433195.1:p.Thr299Ser
ENST00000529191.5:c.115-27G>C (FTH1)	ENSP00000431659.1:n.115-27G>C
ENST00000529631.5:c.115-50G>C (FTH1)	ENSP00000431575.1:n.115-50G>C
ENST00000530019.5:c.262-50G>C (FTH1)	ENSP00000433470.1:n.262-50G>C
ENST00000534553.5:c.164-2301C>G (BEST1)	ENSP00000431189.1:n.164-2301C>G
NM_001139443.1:c.831C>G (BEST1)	NP_001132915.1:p.Tyr277Ter
NM_001300786.1:c.750C>G (BEST1)	NP_001287715.1:p.Tyr250Ter
NM_001300787.1:c.831C>G (BEST1)	NP_001287716.1:p.Tyr277Ter
NM_004183.3:c.1011C>G (BEST1)	NP_004174.1:p.Tyr337Ter
XM_005274210.2:c.1011C>G (BEST1)	XP_005274267.1:p.Tyr337Ter
XM_005274215.2:c.693C>G (BEST1)	XP_005274272.1:p.Tyr231Ter
XM_005274216.2:c.1034C>G (BEST1)	XP_005274273.1:p.Thr345Ser
XM_005274218.3:c.896C>G (BEST1)	XP_005274275.1:p.Thr299Ser
XM_005274219.2:c.867+1656C>G (BEST1)	XP_005274276.1:n.867+1656C>G
XM_005274221.2:c.715-2301C>G (BEST1)	XP_005274278.1:n.715-2301C>G
XM_011545229.1:c.1011C>G (BEST1)	XP_011543531.1:p.Tyr337Ter
XM_011545230.1:c.918C>G (BEST1)	XP_011543532.1:p.Tyr306Ter
XM_011545231.1:c.693C>G (BEST1)	XP_011543533.1:p.Tyr231Ter
XM_011545232.1:c.1214C>G (BEST1)	XP_011543534.1:p.Thr405Ser
XM_011545233.1:c.168C>G (BEST1)	XP_011543535.1:p.Tyr56Ter
NM_001363591.1:c.693C>G (BEST1)	NP_001350520.1:p.Tyr231Ter
NM_001363592.1:c.1214C>G (BEST1)	NP_001350521.1:p.Thr405Ser
NM_001363593.1:c.39C>G (BEST1)	NP_001350522.1:p.Tyr13Ter
NR_134580.1:n.1794C>G (BEST1)
XM_005274210.4:c.1011C>G (BEST1)	XP_005274267.1:p.Tyr337Ter
XM_005274215.4:c.693C>G (BEST1)	XP_005274272.1:p.Tyr231Ter
XM_005274216.4:c.1034C>G (BEST1)	XP_005274273.1:p.Thr345Ser
XM_005274219.4:c.867+1656C>G (BEST1)	XP_005274276.1:n.867+1656C>G
XM_005274221.4:c.715-2301C>G (BEST1)	XP_005274278.1:n.715-2301C>G
XM_011545229.3:c.1011C>G (BEST1)	XP_011543531.1:p.Tyr337Ter
XM_011545230.3:c.918C>G (BEST1)	XP_011543532.1:p.Tyr306Ter
XM_011545233.3:c.168C>G (BEST1)	XP_011543535.1:p.Tyr56Ter
XM_017018230.2:c.896C>G (BEST1)	XP_016873719.1:p.Thr299Ser
XR_001747952.2:n.1712C>G (BEST1)
XR_001747953.2:n.1557+1656C>G (BEST1)
XR_001747954.2:n.1405-2301C>G (BEST1)
NM_004183.4:c.1011C>G (BEST1) MANE Select	NP_004174.1:p.Tyr337Ter
NM_001139443.2:c.831C>G (BEST1)	NP_001132915.1:p.Tyr277Ter
NM_001300786.2:c.750C>G (BEST1)	NP_001287715.1:p.Tyr250Ter
NM_001300787.2:c.831C>G (BEST1)	NP_001287716.1:p.Tyr277Ter
NM_001363591.2:c.693C>G (BEST1)	NP_001350520.1:p.Tyr231Ter
NM_001363593.2:c.39C>G (BEST1)	NP_001350522.1:p.Tyr13Ter
NR_134580.2:n.1327C>G (BEST1)