Canonical Allele Identifier: CA252411

Gene: BEST1

Linked Data

• ClinVar Variation Id: 2747
• ClinVar RCV Id: RCV000002870 ; RCV001382239
• dbSNP Id: rs267606680
• MyVariant Identifiers: chr11:g.61724448T>C (hg19) ; chr11:g.61956976T>C (hg38)
• PubMed: PMID:19853238

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61956976T>C , CM000673.2:g.61956976T>C	GRCh38
NC_000011.9:g.61724448T>C , CM000673.1:g.61724448T>C	GRCh37
NC_000011.8:g.61481024T>C	NCBI36
NG_009033.1:g.12093T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.614T>C MANE Select	ENSP00000367282.4:p.Ile205Thr
ENST00000378043.8:c.614T>C	ENSP00000367282.4:p.Ile205Thr
ENST00000449131.6:c.434T>C	ENSP00000399709.2:p.Ile145Thr
ENST00000524877.5:n.1046T>C
ENST00000524926.5:c.614T>C	ENSP00000432681.1:p.Ile205Thr
ENST00000526988.1:c.296T>C	ENSP00000433195.1:p.Ile99Thr
ENST00000529265.5:n.537T>C
ENST00000534553.5:c.163+1025T>C	ENSP00000431189.1:n.163+1025T>C
NM_001139443.1:c.434T>C	NP_001132915.1:p.Ile145Thr
NM_001300786.1:c.434T>C	NP_001287715.1:p.Ile145Thr
NM_001300787.1:c.434T>C	NP_001287716.1:p.Ile145Thr
NM_004183.3:c.614T>C	NP_004174.1:p.Ile205Thr
XM_005274210.2:c.614T>C	XP_005274267.1:p.Ile205Thr
XM_005274215.2:c.296T>C	XP_005274272.1:p.Ile99Thr
XM_005274216.2:c.434T>C	XP_005274273.1:p.Ile145Thr
XM_005274218.3:c.296T>C	XP_005274275.1:p.Ile99Thr
XM_005274219.2:c.614T>C	XP_005274276.1:p.Ile205Thr
XM_005274221.2:c.614T>C	XP_005274278.1:p.Ile205Thr
XM_011545229.1:c.614T>C	XP_011543531.1:p.Ile205Thr
XM_011545230.1:c.521T>C	XP_011543532.1:p.Ile174Thr
XM_011545231.1:c.296T>C	XP_011543533.1:p.Ile99Thr
XM_011545232.1:c.614T>C	XP_011543534.1:p.Ile205Thr
NM_001363591.1:c.296T>C	NP_001350520.1:p.Ile99Thr
NM_001363592.1:c.614T>C	NP_001350521.1:p.Ile205Thr
NM_001363593.1:c.-562T>C	NP_001350522.1:n.-562T>C
NR_134580.1:n.1194T>C
XM_005274210.4:c.614T>C	XP_005274267.1:p.Ile205Thr
XM_005274215.4:c.296T>C	XP_005274272.1:p.Ile99Thr
XM_005274216.4:c.434T>C	XP_005274273.1:p.Ile145Thr
XM_005274219.4:c.614T>C	XP_005274276.1:p.Ile205Thr
XM_005274221.4:c.614T>C	XP_005274278.1:p.Ile205Thr
XM_011545229.3:c.614T>C	XP_011543531.1:p.Ile205Thr
XM_011545230.3:c.521T>C	XP_011543532.1:p.Ile174Thr
XM_017018230.2:c.296T>C	XP_016873719.1:p.Ile99Thr
XR_001747952.2:n.1112T>C
XR_001747953.2:n.1304T>C
XR_001747954.2:n.1304T>C
XR_002957249.1:n.762A>G
NM_004183.4:c.614T>C MANE Select	NP_004174.1:p.Ile205Thr
NM_001139443.2:c.434T>C	NP_001132915.1:p.Ile145Thr
NM_001300786.2:c.434T>C	NP_001287715.1:p.Ile145Thr
NM_001300787.2:c.434T>C	NP_001287716.1:p.Ile145Thr
NM_001363591.2:c.296T>C	NP_001350520.1:p.Ile99Thr
NM_001363593.2:c.-562T>C	NP_001350522.1:n.-562T>C
NR_134580.2:n.727T>C