Canonical Allele Identifier: CA380844029

Gene: BEST1

Linked Data

• ClinVar Variation Id: 2137122
• ClinVar RCV Id: RCV003058319
• gnomAD v4: 11-61959555-T-C
• MyVariant Identifiers: chr11:g.61727027T>C (hg19) ; chr11:g.61959555T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959555T>C , CM000673.2:g.61959555T>C	GRCh38
NC_000011.9:g.61727027T>C , CM000673.1:g.61727027T>C	GRCh37
NC_000011.8:g.61483603T>C	NCBI36
NG_009033.1:g.14672T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.925T>C MANE Select	ENSP00000367282.4:p.Trp309Arg
ENST00000378043.8:c.925T>C	ENSP00000367282.4:p.Trp309Arg
ENST00000449131.6:c.745T>C	ENSP00000399709.2:p.Trp249Arg
ENST00000524877.5:n.2556T>C
ENST00000524926.5:c.1128T>C	ENSP00000432681.1:p.Thr376=
ENST00000526988.1:c.810T>C	ENSP00000433195.1:p.Thr270=
ENST00000534553.5:c.164-2700T>C	ENSP00000431189.1:n.164-2700T>C
NM_001139443.1:c.745T>C	NP_001132915.1:p.Trp249Arg
NM_001300786.1:c.688-337T>C	NP_001287715.1:n.688-337T>C
NM_001300787.1:c.745T>C	NP_001287716.1:p.Trp249Arg
NM_004183.3:c.925T>C	NP_004174.1:p.Trp309Arg
XM_005274210.2:c.925T>C	XP_005274267.1:p.Trp309Arg
XM_005274215.2:c.607T>C	XP_005274272.1:p.Trp203Arg
XM_005274216.2:c.948T>C	XP_005274273.1:p.Thr316=
XM_005274218.3:c.810T>C	XP_005274275.1:p.Thr270=
XM_005274219.2:c.867+1257T>C	XP_005274276.1:n.867+1257T>C
XM_005274221.2:c.714+2091T>C	XP_005274278.1:n.714+2091T>C
XM_011545229.1:c.925T>C	XP_011543531.1:p.Trp309Arg
XM_011545230.1:c.832T>C	XP_011543532.1:p.Trp278Arg
XM_011545231.1:c.607T>C	XP_011543533.1:p.Trp203Arg
XM_011545232.1:c.1128T>C	XP_011543534.1:p.Thr376=
XM_011545233.1:c.82T>C	XP_011543535.1:p.Trp28Arg
NM_001363591.1:c.607T>C	NP_001350520.1:p.Trp203Arg
NM_001363592.1:c.1128T>C	NP_001350521.1:p.Thr376=
NM_001363593.1:c.-48T>C	NP_001350522.1:n.-48T>C
NR_134580.1:n.1708T>C
XM_005274210.4:c.925T>C	XP_005274267.1:p.Trp309Arg
XM_005274215.4:c.607T>C	XP_005274272.1:p.Trp203Arg
XM_005274216.4:c.948T>C	XP_005274273.1:p.Thr316=
XM_005274219.4:c.867+1257T>C	XP_005274276.1:n.867+1257T>C
XM_005274221.4:c.714+2091T>C	XP_005274278.1:n.714+2091T>C
XM_011545229.3:c.925T>C	XP_011543531.1:p.Trp309Arg
XM_011545230.3:c.832T>C	XP_011543532.1:p.Trp278Arg
XM_011545233.3:c.82T>C	XP_011543535.1:p.Trp28Arg
XM_017018230.2:c.810T>C	XP_016873719.1:p.Thr270=
XR_001747952.2:n.1626T>C
XR_001747953.2:n.1557+1257T>C
XR_001747954.2:n.1404+2091T>C
XR_001748245.1:n.196+177A>G
XR_002957249.1:n.196+177A>G
NM_004183.4:c.925T>C MANE Select	NP_004174.1:p.Trp309Arg
NM_001139443.2:c.745T>C	NP_001132915.1:p.Trp249Arg
NM_001300786.2:c.688-337T>C	NP_001287715.1:n.688-337T>C
NM_001300787.2:c.745T>C	NP_001287716.1:p.Trp249Arg
NM_001363591.2:c.607T>C	NP_001350520.1:p.Trp203Arg
NM_001363593.2:c.-48T>C	NP_001350522.1:n.-48T>C
NR_134580.2:n.1241T>C