Canonical Allele Identifier: CA380846047

Gene: BEST1 FTH1

Linked Data

• ClinVar Variation Id: 522530
• ClinVar RCV Id: RCV000625673
• dbSNP Id: rs1554963305
• COSMIC: COSM467106
• MyVariant Identifiers: chr11:g.61727371T>C (hg19) ; chr11:g.61959899T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959899T>C , CM000673.2:g.61959899T>C	GRCh38
NC_000011.9:g.61727371T>C , CM000673.1:g.61727371T>C	GRCh37
NC_000011.8:g.61483947T>C	NCBI36
NG_009033.1:g.15016T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.956T>C (BEST1) MANE Select	ENSP00000367282.4:p.Leu319Pro
ENST00000378043.8:c.956T>C (BEST1)	ENSP00000367282.4:p.Leu319Pro
ENST00000449131.6:c.776T>C (BEST1)	ENSP00000399709.2:p.Leu259Pro
ENST00000524877.5:n.2587T>C (BEST1)
ENST00000524926.5:c.1159T>C (BEST1)	ENSP00000432681.1:p.Cys387Arg
ENST00000526988.1:c.841T>C (BEST1)	ENSP00000433195.1:p.Cys281Arg
ENST00000529191.5:c.143A>G (FTH1)	ENSP00000431659.1:p.Gln48Arg
ENST00000529631.5:c.120A>G (FTH1)	ENSP00000431575.1:p.Thr40=
ENST00000530019.5:c.267A>G (FTH1)	ENSP00000433470.1:p.Thr89=
ENST00000534553.5:c.164-2356T>C (BEST1)	ENSP00000431189.1:n.164-2356T>C
NM_001139443.1:c.776T>C (BEST1)	NP_001132915.1:p.Leu259Pro
NM_001300786.1:c.695T>C (BEST1)	NP_001287715.1:p.Leu232Pro
NM_001300787.1:c.776T>C (BEST1)	NP_001287716.1:p.Leu259Pro
NM_004183.3:c.956T>C (BEST1)	NP_004174.1:p.Leu319Pro
XM_005274210.2:c.956T>C (BEST1)	XP_005274267.1:p.Leu319Pro
XM_005274215.2:c.638T>C (BEST1)	XP_005274272.1:p.Leu213Pro
XM_005274216.2:c.979T>C (BEST1)	XP_005274273.1:p.Cys327Arg
XM_005274218.3:c.841T>C (BEST1)	XP_005274275.1:p.Cys281Arg
XM_005274219.2:c.867+1601T>C (BEST1)	XP_005274276.1:n.867+1601T>C
XM_005274221.2:c.715-2356T>C (BEST1)	XP_005274278.1:n.715-2356T>C
XM_011545229.1:c.956T>C (BEST1)	XP_011543531.1:p.Leu319Pro
XM_011545230.1:c.863T>C (BEST1)	XP_011543532.1:p.Leu288Pro
XM_011545231.1:c.638T>C (BEST1)	XP_011543533.1:p.Leu213Pro
XM_011545232.1:c.1159T>C (BEST1)	XP_011543534.1:p.Cys387Arg
XM_011545233.1:c.113T>C (BEST1)	XP_011543535.1:p.Leu38Pro
NM_001363591.1:c.638T>C (BEST1)	NP_001350520.1:p.Leu213Pro
NM_001363592.1:c.1159T>C (BEST1)	NP_001350521.1:p.Cys387Arg
NM_001363593.1:c.-17T>C (BEST1)	NP_001350522.1:n.-17T>C
NR_134580.1:n.1739T>C (BEST1)
XM_005274210.4:c.956T>C (BEST1)	XP_005274267.1:p.Leu319Pro
XM_005274215.4:c.638T>C (BEST1)	XP_005274272.1:p.Leu213Pro
XM_005274216.4:c.979T>C (BEST1)	XP_005274273.1:p.Cys327Arg
XM_005274219.4:c.867+1601T>C (BEST1)	XP_005274276.1:n.867+1601T>C
XM_005274221.4:c.715-2356T>C (BEST1)	XP_005274278.1:n.715-2356T>C
XM_011545229.3:c.956T>C (BEST1)	XP_011543531.1:p.Leu319Pro
XM_011545230.3:c.863T>C (BEST1)	XP_011543532.1:p.Leu288Pro
XM_011545233.3:c.113T>C (BEST1)	XP_011543535.1:p.Leu38Pro
XM_017018230.2:c.841T>C (BEST1)	XP_016873719.1:p.Cys281Arg
XR_001747952.2:n.1657T>C (BEST1)
XR_001747953.2:n.1557+1601T>C (BEST1)
XR_001747954.2:n.1405-2356T>C (BEST1)
XR_001748245.1:n.29A>G
XR_002957249.1:n.29A>G
NM_004183.4:c.956T>C (BEST1) MANE Select	NP_004174.1:p.Leu319Pro
NM_001139443.2:c.776T>C (BEST1)	NP_001132915.1:p.Leu259Pro
NM_001300786.2:c.695T>C (BEST1)	NP_001287715.1:p.Leu232Pro
NM_001300787.2:c.776T>C (BEST1)	NP_001287716.1:p.Leu259Pro
NM_001363591.2:c.638T>C (BEST1)	NP_001350520.1:p.Leu213Pro
NM_001363593.2:c.-17T>C (BEST1)	NP_001350522.1:n.-17T>C
NR_134580.2:n.1272T>C (BEST1)