Canonical Allele Identifier: CA380846039

Gene: BEST1 FTH1

Linked Data

• MyVariant Identifiers: chr11:g.61727367T>G (hg19) ; chr11:g.61959895T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959895T>G , CM000673.2:g.61959895T>G	GRCh38
NC_000011.9:g.61727367T>G , CM000673.1:g.61727367T>G	GRCh37
NC_000011.8:g.61483943T>G	NCBI36
NG_009033.1:g.15012T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.952T>G (BEST1) MANE Select	ENSP00000367282.4:p.Ser318Ala
ENST00000378043.8:c.952T>G (BEST1)	ENSP00000367282.4:p.Ser318Ala
ENST00000449131.6:c.772T>G (BEST1)	ENSP00000399709.2:p.Ser258Ala
ENST00000524877.5:n.2583T>G (BEST1)
ENST00000524926.5:c.1155T>G (BEST1)	ENSP00000432681.1:p.Cys385Trp
ENST00000526988.1:c.837T>G (BEST1)	ENSP00000433195.1:p.Cys279Trp
ENST00000529191.5:c.147A>C (FTH1)	ENSP00000431659.1:p.Gly49=
ENST00000529631.5:c.124A>C (FTH1)	ENSP00000431575.1:p.Thr42Pro
ENST00000530019.5:c.271A>C (FTH1)	ENSP00000433470.1:p.Thr91Pro
ENST00000534553.5:c.164-2360T>G (BEST1)	ENSP00000431189.1:n.164-2360T>G
NM_001139443.1:c.772T>G (BEST1)	NP_001132915.1:p.Ser258Ala
NM_001300786.1:c.691T>G (BEST1)	NP_001287715.1:p.Ser231Ala
NM_001300787.1:c.772T>G (BEST1)	NP_001287716.1:p.Ser258Ala
NM_004183.3:c.952T>G (BEST1)	NP_004174.1:p.Ser318Ala
XM_005274210.2:c.952T>G (BEST1)	XP_005274267.1:p.Ser318Ala
XM_005274215.2:c.634T>G (BEST1)	XP_005274272.1:p.Ser212Ala
XM_005274216.2:c.975T>G (BEST1)	XP_005274273.1:p.Cys325Trp
XM_005274218.3:c.837T>G (BEST1)	XP_005274275.1:p.Cys279Trp
XM_005274219.2:c.867+1597T>G (BEST1)	XP_005274276.1:n.867+1597T>G
XM_005274221.2:c.715-2360T>G (BEST1)	XP_005274278.1:n.715-2360T>G
XM_011545229.1:c.952T>G (BEST1)	XP_011543531.1:p.Ser318Ala
XM_011545230.1:c.859T>G (BEST1)	XP_011543532.1:p.Ser287Ala
XM_011545231.1:c.634T>G (BEST1)	XP_011543533.1:p.Ser212Ala
XM_011545232.1:c.1155T>G (BEST1)	XP_011543534.1:p.Cys385Trp
XM_011545233.1:c.109T>G (BEST1)	XP_011543535.1:p.Ser37Ala
NM_001363591.1:c.634T>G (BEST1)	NP_001350520.1:p.Ser212Ala
NM_001363592.1:c.1155T>G (BEST1)	NP_001350521.1:p.Cys385Trp
NM_001363593.1:c.-21T>G (BEST1)	NP_001350522.1:n.-21T>G
NR_134580.1:n.1735T>G (BEST1)
XM_005274210.4:c.952T>G (BEST1)	XP_005274267.1:p.Ser318Ala
XM_005274215.4:c.634T>G (BEST1)	XP_005274272.1:p.Ser212Ala
XM_005274216.4:c.975T>G (BEST1)	XP_005274273.1:p.Cys325Trp
XM_005274219.4:c.867+1597T>G (BEST1)	XP_005274276.1:n.867+1597T>G
XM_005274221.4:c.715-2360T>G (BEST1)	XP_005274278.1:n.715-2360T>G
XM_011545229.3:c.952T>G (BEST1)	XP_011543531.1:p.Ser318Ala
XM_011545230.3:c.859T>G (BEST1)	XP_011543532.1:p.Ser287Ala
XM_011545233.3:c.109T>G (BEST1)	XP_011543535.1:p.Ser37Ala
XM_017018230.2:c.837T>G (BEST1)	XP_016873719.1:p.Cys279Trp
XR_001747952.2:n.1653T>G (BEST1)
XR_001747953.2:n.1557+1597T>G (BEST1)
XR_001747954.2:n.1405-2360T>G (BEST1)
XR_001748245.1:n.33A>C
XR_002957249.1:n.33A>C
NM_004183.4:c.952T>G (BEST1) MANE Select	NP_004174.1:p.Ser318Ala
NM_001139443.2:c.772T>G (BEST1)	NP_001132915.1:p.Ser258Ala
NM_001300786.2:c.691T>G (BEST1)	NP_001287715.1:p.Ser231Ala
NM_001300787.2:c.772T>G (BEST1)	NP_001287716.1:p.Ser258Ala
NM_001363591.2:c.634T>G (BEST1)	NP_001350520.1:p.Ser212Ala
NM_001363593.2:c.-21T>G (BEST1)	NP_001350522.1:n.-21T>G
NR_134580.2:n.1268T>G (BEST1)