Canonical Allele Identifier: CA6040921

Gene: BEST1

Linked Data

• dbSNP Id: rs773700304
• ExAC: 11:61727045 T / C
• gnomAD v2: 11-61727045-T-C
• gnomAD v4: 11-61959573-T-C
• MyVariant Identifiers: chr11:g.61727045T>C (hg19) ; chr11:g.61959573T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959573T>C , CM000673.2:g.61959573T>C	GRCh38
NC_000011.9:g.61727045T>C , CM000673.1:g.61727045T>C	GRCh37
NC_000011.8:g.61483621T>C	NCBI36
NG_009033.1:g.14690T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.943T>C MANE Select	ENSP00000367282.4:p.Leu315=
ENST00000378043.8:c.943T>C	ENSP00000367282.4:p.Leu315=
ENST00000449131.6:c.763T>C	ENSP00000399709.2:p.Leu255=
ENST00000524877.5:n.2574T>C
ENST00000524926.5:c.1146T>C	ENSP00000432681.1:p.Ile382=
ENST00000526988.1:c.828T>C	ENSP00000433195.1:p.Ile276=
ENST00000534553.5:c.164-2682T>C	ENSP00000431189.1:n.164-2682T>C
NM_001139443.1:c.763T>C	NP_001132915.1:p.Leu255=
NM_001300786.1:c.688-319T>C	NP_001287715.1:n.688-319T>C
NM_001300787.1:c.763T>C	NP_001287716.1:p.Leu255=
NM_004183.3:c.943T>C	NP_004174.1:p.Leu315=
XM_005274210.2:c.943T>C	XP_005274267.1:p.Leu315=
XM_005274215.2:c.625T>C	XP_005274272.1:p.Leu209=
XM_005274216.2:c.966T>C	XP_005274273.1:p.Ile322=
XM_005274218.3:c.828T>C	XP_005274275.1:p.Ile276=
XM_005274219.2:c.867+1275T>C	XP_005274276.1:n.867+1275T>C
XM_005274221.2:c.714+2109T>C	XP_005274278.1:n.714+2109T>C
XM_011545229.1:c.943T>C	XP_011543531.1:p.Leu315=
XM_011545230.1:c.850T>C	XP_011543532.1:p.Leu284=
XM_011545231.1:c.625T>C	XP_011543533.1:p.Leu209=
XM_011545232.1:c.1146T>C	XP_011543534.1:p.Ile382=
XM_011545233.1:c.100T>C	XP_011543535.1:p.Leu34=
NM_001363591.1:c.625T>C	NP_001350520.1:p.Leu209=
NM_001363592.1:c.1146T>C	NP_001350521.1:p.Ile382=
NM_001363593.1:c.-30T>C	NP_001350522.1:n.-30T>C
NR_134580.1:n.1726T>C
XM_005274210.4:c.943T>C	XP_005274267.1:p.Leu315=
XM_005274215.4:c.625T>C	XP_005274272.1:p.Leu209=
XM_005274216.4:c.966T>C	XP_005274273.1:p.Ile322=
XM_005274219.4:c.867+1275T>C	XP_005274276.1:n.867+1275T>C
XM_005274221.4:c.714+2109T>C	XP_005274278.1:n.714+2109T>C
XM_011545229.3:c.943T>C	XP_011543531.1:p.Leu315=
XM_011545230.3:c.850T>C	XP_011543532.1:p.Leu284=
XM_011545233.3:c.100T>C	XP_011543535.1:p.Leu34=
XM_017018230.2:c.828T>C	XP_016873719.1:p.Ile276=
XR_001747952.2:n.1644T>C
XR_001747953.2:n.1557+1275T>C
XR_001747954.2:n.1404+2109T>C
XR_001748245.1:n.196+159A>G
XR_002957249.1:n.196+159A>G
NM_004183.4:c.943T>C MANE Select	NP_004174.1:p.Leu315=
NM_001139443.2:c.763T>C	NP_001132915.1:p.Leu255=
NM_001300786.2:c.688-319T>C	NP_001287715.1:n.688-319T>C
NM_001300787.2:c.763T>C	NP_001287716.1:p.Leu255=
NM_001363591.2:c.625T>C	NP_001350520.1:p.Leu209=
NM_001363593.2:c.-30T>C	NP_001350522.1:n.-30T>C
NR_134580.2:n.1259T>C