Canonical Allele Identifier: CA380838958

Gene: BEST1

Linked Data

• ClinVar Variation Id: 987303
• ClinVar RCV Id: RCV001268629
• dbSNP Id: rs1941503926
• MyVariant Identifiers: chr11:g.61724935A>G (hg19) ; chr11:g.61957463A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61957463A>G , CM000673.2:g.61957463A>G	GRCh38
NC_000011.9:g.61724935A>G , CM000673.1:g.61724935A>G	GRCh37
NC_000011.8:g.61481511A>G	NCBI36
NG_009033.1:g.12580A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000378043.9:c.713A>G MANE Select	ENSP00000367282.4:p.Gln238Arg
ENST00000378043.8:c.713A>G	ENSP00000367282.4:p.Gln238Arg
ENST00000449131.6:c.533A>G	ENSP00000399709.2:p.Gln178Arg
ENST00000524877.5:n.1145A>G
ENST00000524926.5:c.713A>G	ENSP00000432681.1:p.Gln238Arg
ENST00000526988.1:c.395A>G	ENSP00000433195.1:p.Gln132Arg
ENST00000529265.5:n.636A>G
ENST00000534553.5:c.163+1512A>G	ENSP00000431189.1:n.163+1512A>G
NM_001139443.1:c.533A>G	NP_001132915.1:p.Gln178Arg
NM_001300786.1:c.533A>G	NP_001287715.1:p.Gln178Arg
NM_001300787.1:c.533A>G	NP_001287716.1:p.Gln178Arg
NM_004183.3:c.713A>G	NP_004174.1:p.Gln238Arg
XM_005274210.2:c.713A>G	XP_005274267.1:p.Gln238Arg
XM_005274215.2:c.395A>G	XP_005274272.1:p.Gln132Arg
XM_005274216.2:c.533A>G	XP_005274273.1:p.Gln178Arg
XM_005274218.3:c.395A>G	XP_005274275.1:p.Gln132Arg
XM_005274219.2:c.713A>G	XP_005274276.1:p.Gln238Arg
XM_005274221.2:c.713A>G	XP_005274278.1:p.Gln238Arg
XM_011545229.1:c.713A>G	XP_011543531.1:p.Gln238Arg
XM_011545230.1:c.620A>G	XP_011543532.1:p.Gln207Arg
XM_011545231.1:c.395A>G	XP_011543533.1:p.Gln132Arg
XM_011545232.1:c.713A>G	XP_011543534.1:p.Gln238Arg
NM_001363591.1:c.395A>G	NP_001350520.1:p.Gln132Arg
NM_001363592.1:c.713A>G	NP_001350521.1:p.Gln238Arg
NM_001363593.1:c.-463A>G	NP_001350522.1:n.-463A>G
NR_134580.1:n.1293A>G
XM_005274210.4:c.713A>G	XP_005274267.1:p.Gln238Arg
XM_005274215.4:c.395A>G	XP_005274272.1:p.Gln132Arg
XM_005274216.4:c.533A>G	XP_005274273.1:p.Gln178Arg
XM_005274219.4:c.713A>G	XP_005274276.1:p.Gln238Arg
XM_005274221.4:c.713A>G	XP_005274278.1:p.Gln238Arg
XM_011545229.3:c.713A>G	XP_011543531.1:p.Gln238Arg
XM_011545230.3:c.620A>G	XP_011543532.1:p.Gln207Arg
XM_017018230.2:c.395A>G	XP_016873719.1:p.Gln132Arg
XR_001747952.2:n.1211A>G
XR_001747953.2:n.1403A>G
XR_001747954.2:n.1403A>G
XR_001748245.1:n.1266T>C
XR_002957249.1:n.506-231T>C
NM_004183.4:c.713A>G MANE Select	NP_004174.1:p.Gln238Arg
NM_001139443.2:c.533A>G	NP_001132915.1:p.Gln178Arg
NM_001300786.2:c.533A>G	NP_001287715.1:p.Gln178Arg
NM_001300787.2:c.533A>G	NP_001287716.1:p.Gln178Arg
NM_001363591.2:c.395A>G	NP_001350520.1:p.Gln132Arg
NM_001363593.2:c.-463A>G	NP_001350522.1:n.-463A>G
NR_134580.2:n.826A>G