Canonical Allele Identifier: CA380846149

Gene: BEST1 FTH1

Linked Data

• dbSNP Id: rs1182889968
• gnomAD v2: 11-61727408-G-T
• MyVariant Identifiers: chr11:g.61727408G>T (hg19) ; chr11:g.61959936G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959936G>T , CM000673.2:g.61959936G>T	GRCh38
NC_000011.9:g.61727408G>T , CM000673.1:g.61727408G>T	GRCh37
NC_000011.8:g.61483984G>T	NCBI36
NG_009033.1:g.15053G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.993G>T (BEST1) MANE Select	ENSP00000367282.4:p.Arg331=
ENST00000378043.8:c.993G>T (BEST1)	ENSP00000367282.4:p.Arg331=
ENST00000449131.6:c.813G>T (BEST1)	ENSP00000399709.2:p.Arg271=
ENST00000524877.5:n.2624G>T (BEST1)
ENST00000524926.5:c.1196G>T (BEST1)	ENSP00000432681.1:p.Gly399Val
ENST00000526988.1:c.878G>T (BEST1)	ENSP00000433195.1:p.Gly293Val
ENST00000529191.5:c.115-9C>A (FTH1)	ENSP00000431659.1:n.115-9C>A
ENST00000529631.5:c.115-32C>A (FTH1)	ENSP00000431575.1:n.115-32C>A
ENST00000530019.5:c.262-32C>A (FTH1)	ENSP00000433470.1:n.262-32C>A
ENST00000534553.5:c.164-2319G>T (BEST1)	ENSP00000431189.1:n.164-2319G>T
NM_001139443.1:c.813G>T (BEST1)	NP_001132915.1:p.Arg271=
NM_001300786.1:c.732G>T (BEST1)	NP_001287715.1:p.Arg244=
NM_001300787.1:c.813G>T (BEST1)	NP_001287716.1:p.Arg271=
NM_004183.3:c.993G>T (BEST1)	NP_004174.1:p.Arg331=
XM_005274210.2:c.993G>T (BEST1)	XP_005274267.1:p.Arg331=
XM_005274215.2:c.675G>T (BEST1)	XP_005274272.1:p.Arg225=
XM_005274216.2:c.1016G>T (BEST1)	XP_005274273.1:p.Gly339Val
XM_005274218.3:c.878G>T (BEST1)	XP_005274275.1:p.Gly293Val
XM_005274219.2:c.867+1638G>T (BEST1)	XP_005274276.1:n.867+1638G>T
XM_005274221.2:c.715-2319G>T (BEST1)	XP_005274278.1:n.715-2319G>T
XM_011545229.1:c.993G>T (BEST1)	XP_011543531.1:p.Arg331=
XM_011545230.1:c.900G>T (BEST1)	XP_011543532.1:p.Arg300=
XM_011545231.1:c.675G>T (BEST1)	XP_011543533.1:p.Arg225=
XM_011545232.1:c.1196G>T (BEST1)	XP_011543534.1:p.Gly399Val
XM_011545233.1:c.150G>T (BEST1)	XP_011543535.1:p.Arg50=
NM_001363591.1:c.675G>T (BEST1)	NP_001350520.1:p.Arg225=
NM_001363592.1:c.1196G>T (BEST1)	NP_001350521.1:p.Gly399Val
NM_001363593.1:c.21G>T (BEST1)	NP_001350522.1:p.Arg7=
NR_134580.1:n.1776G>T (BEST1)
XM_005274210.4:c.993G>T (BEST1)	XP_005274267.1:p.Arg331=
XM_005274215.4:c.675G>T (BEST1)	XP_005274272.1:p.Arg225=
XM_005274216.4:c.1016G>T (BEST1)	XP_005274273.1:p.Gly339Val
XM_005274219.4:c.867+1638G>T (BEST1)	XP_005274276.1:n.867+1638G>T
XM_005274221.4:c.715-2319G>T (BEST1)	XP_005274278.1:n.715-2319G>T
XM_011545229.3:c.993G>T (BEST1)	XP_011543531.1:p.Arg331=
XM_011545230.3:c.900G>T (BEST1)	XP_011543532.1:p.Arg300=
XM_011545233.3:c.150G>T (BEST1)	XP_011543535.1:p.Arg50=
XM_017018230.2:c.878G>T (BEST1)	XP_016873719.1:p.Gly293Val
XR_001747952.2:n.1694G>T (BEST1)
XR_001747953.2:n.1557+1638G>T (BEST1)
XR_001747954.2:n.1405-2319G>T (BEST1)
NM_004183.4:c.993G>T (BEST1) MANE Select	NP_004174.1:p.Arg331=
NM_001139443.2:c.813G>T (BEST1)	NP_001132915.1:p.Arg271=
NM_001300786.2:c.732G>T (BEST1)	NP_001287715.1:p.Arg244=
NM_001300787.2:c.813G>T (BEST1)	NP_001287716.1:p.Arg271=
NM_001363591.2:c.675G>T (BEST1)	NP_001350520.1:p.Arg225=
NM_001363593.2:c.21G>T (BEST1)	NP_001350522.1:p.Arg7=
NR_134580.2:n.1309G>T (BEST1)