Canonical Allele Identifier: CA380846146

Gene: BEST1 FTH1

Linked Data

• ClinVar Variation Id: 1346541
• ClinVar RCV Id: RCV002041435
• dbSNP Id: rs201386186
• MyVariant Identifiers: chr11:g.61727407G>C (hg19) ; chr11:g.61959935G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959935G>C , CM000673.2:g.61959935G>C	GRCh38
NC_000011.9:g.61727407G>C , CM000673.1:g.61727407G>C	GRCh37
NC_000011.8:g.61483983G>C	NCBI36
NG_009033.1:g.15052G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.992G>C (BEST1) MANE Select	ENSP00000367282.4:p.Arg331Pro
ENST00000378043.8:c.992G>C (BEST1)	ENSP00000367282.4:p.Arg331Pro
ENST00000449131.6:c.812G>C (BEST1)	ENSP00000399709.2:p.Arg271Pro
ENST00000524877.5:n.2623G>C (BEST1)
ENST00000524926.5:c.1195G>C (BEST1)	ENSP00000432681.1:p.Gly399Arg
ENST00000526988.1:c.877G>C (BEST1)	ENSP00000433195.1:p.Gly293Arg
ENST00000529191.5:c.115-8C>G (FTH1)	ENSP00000431659.1:n.115-8C>G
ENST00000529631.5:c.115-31C>G (FTH1)	ENSP00000431575.1:n.115-31C>G
ENST00000530019.5:c.262-31C>G (FTH1)	ENSP00000433470.1:n.262-31C>G
ENST00000534553.5:c.164-2320G>C (BEST1)	ENSP00000431189.1:n.164-2320G>C
NM_001139443.1:c.812G>C (BEST1)	NP_001132915.1:p.Arg271Pro
NM_001300786.1:c.731G>C (BEST1)	NP_001287715.1:p.Arg244Pro
NM_001300787.1:c.812G>C (BEST1)	NP_001287716.1:p.Arg271Pro
NM_004183.3:c.992G>C (BEST1)	NP_004174.1:p.Arg331Pro
XM_005274210.2:c.992G>C (BEST1)	XP_005274267.1:p.Arg331Pro
XM_005274215.2:c.674G>C (BEST1)	XP_005274272.1:p.Arg225Pro
XM_005274216.2:c.1015G>C (BEST1)	XP_005274273.1:p.Gly339Arg
XM_005274218.3:c.877G>C (BEST1)	XP_005274275.1:p.Gly293Arg
XM_005274219.2:c.867+1637G>C (BEST1)	XP_005274276.1:n.867+1637G>C
XM_005274221.2:c.715-2320G>C (BEST1)	XP_005274278.1:n.715-2320G>C
XM_011545229.1:c.992G>C (BEST1)	XP_011543531.1:p.Arg331Pro
XM_011545230.1:c.899G>C (BEST1)	XP_011543532.1:p.Arg300Pro
XM_011545231.1:c.674G>C (BEST1)	XP_011543533.1:p.Arg225Pro
XM_011545232.1:c.1195G>C (BEST1)	XP_011543534.1:p.Gly399Arg
XM_011545233.1:c.149G>C (BEST1)	XP_011543535.1:p.Arg50Pro
NM_001363591.1:c.674G>C (BEST1)	NP_001350520.1:p.Arg225Pro
NM_001363592.1:c.1195G>C (BEST1)	NP_001350521.1:p.Gly399Arg
NM_001363593.1:c.20G>C (BEST1)	NP_001350522.1:p.Arg7Pro
NR_134580.1:n.1775G>C (BEST1)
XM_005274210.4:c.992G>C (BEST1)	XP_005274267.1:p.Arg331Pro
XM_005274215.4:c.674G>C (BEST1)	XP_005274272.1:p.Arg225Pro
XM_005274216.4:c.1015G>C (BEST1)	XP_005274273.1:p.Gly339Arg
XM_005274219.4:c.867+1637G>C (BEST1)	XP_005274276.1:n.867+1637G>C
XM_005274221.4:c.715-2320G>C (BEST1)	XP_005274278.1:n.715-2320G>C
XM_011545229.3:c.992G>C (BEST1)	XP_011543531.1:p.Arg331Pro
XM_011545230.3:c.899G>C (BEST1)	XP_011543532.1:p.Arg300Pro
XM_011545233.3:c.149G>C (BEST1)	XP_011543535.1:p.Arg50Pro
XM_017018230.2:c.877G>C (BEST1)	XP_016873719.1:p.Gly293Arg
XR_001747952.2:n.1693G>C (BEST1)
XR_001747953.2:n.1557+1637G>C (BEST1)
XR_001747954.2:n.1405-2320G>C (BEST1)
NM_004183.4:c.992G>C (BEST1) MANE Select	NP_004174.1:p.Arg331Pro
NM_001139443.2:c.812G>C (BEST1)	NP_001132915.1:p.Arg271Pro
NM_001300786.2:c.731G>C (BEST1)	NP_001287715.1:p.Arg244Pro
NM_001300787.2:c.812G>C (BEST1)	NP_001287716.1:p.Arg271Pro
NM_001363591.2:c.674G>C (BEST1)	NP_001350520.1:p.Arg225Pro
NM_001363593.2:c.20G>C (BEST1)	NP_001350522.1:p.Arg7Pro
NR_134580.2:n.1308G>C (BEST1)