Canonical Allele Identifier: CA380843856

Gene: BEST1

Linked Data

• ClinVar Variation Id: 1708406
• ClinVar RCV Id: RCV002287779
• MyVariant Identifiers: chr11:g.61727003G>C (hg19) ; chr11:g.61959531G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959531G>C , CM000673.2:g.61959531G>C	GRCh38
NC_000011.9:g.61727003G>C , CM000673.1:g.61727003G>C	GRCh37
NC_000011.8:g.61483579G>C	NCBI36
NG_009033.1:g.14648G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.901G>C MANE Select	ENSP00000367282.4:p.Asp301His
ENST00000378043.8:c.901G>C	ENSP00000367282.4:p.Asp301His
ENST00000449131.6:c.721G>C	ENSP00000399709.2:p.Asp241His
ENST00000524877.5:n.2532G>C
ENST00000524926.5:c.1104G>C	ENSP00000432681.1:p.Arg368Ser
ENST00000526988.1:c.786G>C	ENSP00000433195.1:p.Arg262Ser
ENST00000534553.5:c.164-2724G>C	ENSP00000431189.1:n.164-2724G>C
NM_001139443.1:c.721G>C	NP_001132915.1:p.Asp241His
NM_001300786.1:c.688-361G>C	NP_001287715.1:n.688-361G>C
NM_001300787.1:c.721G>C	NP_001287716.1:p.Asp241His
NM_004183.3:c.901G>C	NP_004174.1:p.Asp301His
XM_005274210.2:c.901G>C	XP_005274267.1:p.Asp301His
XM_005274215.2:c.583G>C	XP_005274272.1:p.Asp195His
XM_005274216.2:c.924G>C	XP_005274273.1:p.Arg308Ser
XM_005274218.3:c.786G>C	XP_005274275.1:p.Arg262Ser
XM_005274219.2:c.867+1233G>C	XP_005274276.1:n.867+1233G>C
XM_005274221.2:c.714+2067G>C	XP_005274278.1:n.714+2067G>C
XM_011545229.1:c.901G>C	XP_011543531.1:p.Asp301His
XM_011545230.1:c.808G>C	XP_011543532.1:p.Asp270His
XM_011545231.1:c.583G>C	XP_011543533.1:p.Asp195His
XM_011545232.1:c.1104G>C	XP_011543534.1:p.Arg368Ser
XM_011545233.1:c.58G>C	XP_011543535.1:p.Asp20His
NM_001363591.1:c.583G>C	NP_001350520.1:p.Asp195His
NM_001363592.1:c.1104G>C	NP_001350521.1:p.Arg368Ser
NM_001363593.1:c.-72G>C	NP_001350522.1:n.-72G>C
NR_134580.1:n.1684G>C
XM_005274210.4:c.901G>C	XP_005274267.1:p.Asp301His
XM_005274215.4:c.583G>C	XP_005274272.1:p.Asp195His
XM_005274216.4:c.924G>C	XP_005274273.1:p.Arg308Ser
XM_005274219.4:c.867+1233G>C	XP_005274276.1:n.867+1233G>C
XM_005274221.4:c.714+2067G>C	XP_005274278.1:n.714+2067G>C
XM_011545229.3:c.901G>C	XP_011543531.1:p.Asp301His
XM_011545230.3:c.808G>C	XP_011543532.1:p.Asp270His
XM_011545233.3:c.58G>C	XP_011543535.1:p.Asp20His
XM_017018230.2:c.786G>C	XP_016873719.1:p.Arg262Ser
XR_001747952.2:n.1602G>C
XR_001747953.2:n.1557+1233G>C
XR_001747954.2:n.1404+2067G>C
XR_001748245.1:n.196+201C>G
XR_002957249.1:n.196+201C>G
NM_004183.4:c.901G>C MANE Select	NP_004174.1:p.Asp301His
NM_001139443.2:c.721G>C	NP_001132915.1:p.Asp241His
NM_001300786.2:c.688-361G>C	NP_001287715.1:n.688-361G>C
NM_001300787.2:c.721G>C	NP_001287716.1:p.Asp241His
NM_001363591.2:c.583G>C	NP_001350520.1:p.Asp195His
NM_001363593.2:c.-72G>C	NP_001350522.1:n.-72G>C
NR_134580.2:n.1217G>C