Canonical Allele Identifier: CA380846292

Gene: BEST1 FTH1

Linked Data

• gnomAD v4: 11-61959990-T-C
• MyVariant Identifiers: chr11:g.61727462T>C (hg19) ; chr11:g.61959990T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959990T>C , CM000673.2:g.61959990T>C	GRCh38
NC_000011.9:g.61727462T>C , CM000673.1:g.61727462T>C	GRCh37
NC_000011.8:g.61484038T>C	NCBI36
NG_009033.1:g.15107T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.1047T>C (BEST1) MANE Select	ENSP00000367282.4:p.Ala349=
ENST00000378043.8:c.1047T>C (BEST1)	ENSP00000367282.4:p.Ala349=
ENST00000449131.6:c.867T>C (BEST1)	ENSP00000399709.2:p.Ala289=
ENST00000524877.5:n.2678T>C (BEST1)
ENST00000524926.5:c.1250T>C (BEST1)	ENSP00000432681.1:p.Leu417Pro
ENST00000526988.1:c.932T>C (BEST1)	ENSP00000433195.1:p.Leu311Pro
ENST00000529191.5:c.115-63A>G (FTH1)	ENSP00000431659.1:n.115-63A>G
ENST00000529631.5:c.115-86A>G (FTH1)	ENSP00000431575.1:n.115-86A>G
ENST00000530019.5:c.262-86A>G (FTH1)	ENSP00000433470.1:n.262-86A>G
ENST00000534553.5:c.164-2265T>C (BEST1)	ENSP00000431189.1:n.164-2265T>C
NM_001139443.1:c.867T>C (BEST1)	NP_001132915.1:p.Ala289=
NM_001300786.1:c.786T>C (BEST1)	NP_001287715.1:p.Ala262=
NM_001300787.1:c.867T>C (BEST1)	NP_001287716.1:p.Ala289=
NM_004183.3:c.1047T>C (BEST1)	NP_004174.1:p.Ala349=
XM_005274210.2:c.1047T>C (BEST1)	XP_005274267.1:p.Ala349=
XM_005274215.2:c.729T>C (BEST1)	XP_005274272.1:p.Ala243=
XM_005274216.2:c.1070T>C (BEST1)	XP_005274273.1:p.Leu357Pro
XM_005274218.3:c.932T>C (BEST1)	XP_005274275.1:p.Leu311Pro
XM_005274219.2:c.867+1692T>C (BEST1)	XP_005274276.1:n.867+1692T>C
XM_005274221.2:c.715-2265T>C (BEST1)	XP_005274278.1:n.715-2265T>C
XM_011545229.1:c.1047T>C (BEST1)	XP_011543531.1:p.Ala349=
XM_011545230.1:c.954T>C (BEST1)	XP_011543532.1:p.Ala318=
XM_011545231.1:c.729T>C (BEST1)	XP_011543533.1:p.Ala243=
XM_011545232.1:c.1250T>C (BEST1)	XP_011543534.1:p.Leu417Pro
XM_011545233.1:c.204T>C (BEST1)	XP_011543535.1:p.Ala68=
NM_001363591.1:c.729T>C (BEST1)	NP_001350520.1:p.Ala243=
NM_001363592.1:c.1250T>C (BEST1)	NP_001350521.1:p.Leu417Pro
NM_001363593.1:c.75T>C (BEST1)	NP_001350522.1:p.Ala25=
NR_134580.1:n.1830T>C (BEST1)
XM_005274210.4:c.1047T>C (BEST1)	XP_005274267.1:p.Ala349=
XM_005274215.4:c.729T>C (BEST1)	XP_005274272.1:p.Ala243=
XM_005274216.4:c.1070T>C (BEST1)	XP_005274273.1:p.Leu357Pro
XM_005274219.4:c.867+1692T>C (BEST1)	XP_005274276.1:n.867+1692T>C
XM_005274221.4:c.715-2265T>C (BEST1)	XP_005274278.1:n.715-2265T>C
XM_011545229.3:c.1047T>C (BEST1)	XP_011543531.1:p.Ala349=
XM_011545230.3:c.954T>C (BEST1)	XP_011543532.1:p.Ala318=
XM_011545233.3:c.204T>C (BEST1)	XP_011543535.1:p.Ala68=
XM_017018230.2:c.932T>C (BEST1)	XP_016873719.1:p.Leu311Pro
XR_001747952.2:n.1748T>C (BEST1)
XR_001747953.2:n.1557+1692T>C (BEST1)
XR_001747954.2:n.1405-2265T>C (BEST1)
NM_004183.4:c.1047T>C (BEST1) MANE Select	NP_004174.1:p.Ala349=
NM_001139443.2:c.867T>C (BEST1)	NP_001132915.1:p.Ala289=
NM_001300786.2:c.786T>C (BEST1)	NP_001287715.1:p.Ala262=
NM_001300787.2:c.867T>C (BEST1)	NP_001287716.1:p.Ala289=
NM_001363591.2:c.729T>C (BEST1)	NP_001350520.1:p.Ala243=
NM_001363593.2:c.75T>C (BEST1)	NP_001350522.1:p.Ala25=
NR_134580.2:n.1363T>C (BEST1)