Canonical Allele Identifier: CA380835243

Gene: BEST1

Linked Data

• ClinVar Variation Id: 999701
• ClinVar RCV Id: RCV001295730 ; RCV001780238
• dbSNP Id: rs1378679988
• MyVariant Identifiers: chr11:g.61723369G>C (hg19) ; chr11:g.61955897G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61955897G>C , CM000673.2:g.61955897G>C	GRCh38
NC_000011.9:g.61723369G>C , CM000673.1:g.61723369G>C	GRCh37
NC_000011.8:g.61479945G>C	NCBI36
NG_009033.1:g.11014G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000378043.9:c.427G>C MANE Select	ENSP00000367282.4:p.Val143Leu
ENST00000378043.8:c.427G>C	ENSP00000367282.4:p.Val143Leu
ENST00000449131.6:c.247G>C	ENSP00000399709.2:p.Val83Leu
ENST00000524877.5:n.859G>C
ENST00000524926.5:c.427G>C	ENSP00000432681.1:p.Val143Leu
ENST00000526988.1:c.109G>C	ENSP00000433195.1:p.Val37Leu
ENST00000529265.5:n.350G>C
ENST00000533521.5:n.1051G>C
ENST00000534553.5:c.109G>C	ENSP00000431189.1:p.Val37Leu
NM_001139443.1:c.247G>C	NP_001132915.1:p.Val83Leu
NM_001300786.1:c.247G>C	NP_001287715.1:p.Val83Leu
NM_001300787.1:c.247G>C	NP_001287716.1:p.Val83Leu
NM_004183.3:c.427G>C	NP_004174.1:p.Val143Leu
XM_005274210.2:c.427G>C	XP_005274267.1:p.Val143Leu
XM_005274215.2:c.109G>C	XP_005274272.1:p.Val37Leu
XM_005274216.2:c.247G>C	XP_005274273.1:p.Val83Leu
XM_005274218.3:c.109G>C	XP_005274275.1:p.Val37Leu
XM_005274219.2:c.427G>C	XP_005274276.1:p.Val143Leu
XM_005274221.2:c.427G>C	XP_005274278.1:p.Val143Leu
XM_011545229.1:c.427G>C	XP_011543531.1:p.Val143Leu
XM_011545230.1:c.334G>C	XP_011543532.1:p.Val112Leu
XM_011545231.1:c.109G>C	XP_011543533.1:p.Val37Leu
XM_011545232.1:c.427G>C	XP_011543534.1:p.Val143Leu
NM_001363591.1:c.109G>C	NP_001350520.1:p.Val37Leu
NM_001363592.1:c.427G>C	NP_001350521.1:p.Val143Leu
NM_001363593.1:c.-749G>C	NP_001350522.1:n.-749G>C
NR_134580.1:n.1007G>C
XM_005274210.4:c.427G>C	XP_005274267.1:p.Val143Leu
XM_005274215.4:c.109G>C	XP_005274272.1:p.Val37Leu
XM_005274216.4:c.247G>C	XP_005274273.1:p.Val83Leu
XM_005274219.4:c.427G>C	XP_005274276.1:p.Val143Leu
XM_005274221.4:c.427G>C	XP_005274278.1:p.Val143Leu
XM_011545229.3:c.427G>C	XP_011543531.1:p.Val143Leu
XM_011545230.3:c.334G>C	XP_011543532.1:p.Val112Leu
XM_017018230.2:c.109G>C	XP_016873719.1:p.Val37Leu
XR_001747952.2:n.925G>C
XR_001747953.2:n.1117G>C
XR_001747954.2:n.1117G>C
XR_002957249.1:n.1841C>G
NM_004183.4:c.427G>C MANE Select	NP_004174.1:p.Val143Leu
NM_001139443.2:c.247G>C	NP_001132915.1:p.Val83Leu
NM_001300786.2:c.247G>C	NP_001287715.1:p.Val83Leu
NM_001300787.2:c.247G>C	NP_001287716.1:p.Val83Leu
NM_001363591.2:c.109G>C	NP_001350520.1:p.Val37Leu
NM_001363593.2:c.-749G>C	NP_001350522.1:n.-749G>C
NR_134580.2:n.540G>C