Canonical Allele Identifier: CA380843864

Gene: BEST1

Linked Data

• ClinVar Variation Id: 1457091
• ClinVar RCV Id: RCV001953577
• dbSNP Id: rs2134453358
• gnomAD v4: 11-61959532-A-G
• MyVariant Identifiers: chr11:g.61727004A>G (hg19) ; chr11:g.61959532A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959532A>G , CM000673.2:g.61959532A>G	GRCh38
NC_000011.9:g.61727004A>G , CM000673.1:g.61727004A>G	GRCh37
NC_000011.8:g.61483580A>G	NCBI36
NG_009033.1:g.14649A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.902A>G MANE Select	ENSP00000367282.4:p.Asp301Gly
ENST00000378043.8:c.902A>G	ENSP00000367282.4:p.Asp301Gly
ENST00000449131.6:c.722A>G	ENSP00000399709.2:p.Asp241Gly
ENST00000524877.5:n.2533A>G
ENST00000524926.5:c.1105A>G	ENSP00000432681.1:p.Met369Val
ENST00000526988.1:c.787A>G	ENSP00000433195.1:p.Met263Val
ENST00000534553.5:c.164-2723A>G	ENSP00000431189.1:n.164-2723A>G
NM_001139443.1:c.722A>G	NP_001132915.1:p.Asp241Gly
NM_001300786.1:c.688-360A>G	NP_001287715.1:n.688-360A>G
NM_001300787.1:c.722A>G	NP_001287716.1:p.Asp241Gly
NM_004183.3:c.902A>G	NP_004174.1:p.Asp301Gly
XM_005274210.2:c.902A>G	XP_005274267.1:p.Asp301Gly
XM_005274215.2:c.584A>G	XP_005274272.1:p.Asp195Gly
XM_005274216.2:c.925A>G	XP_005274273.1:p.Met309Val
XM_005274218.3:c.787A>G	XP_005274275.1:p.Met263Val
XM_005274219.2:c.867+1234A>G	XP_005274276.1:n.867+1234A>G
XM_005274221.2:c.714+2068A>G	XP_005274278.1:n.714+2068A>G
XM_011545229.1:c.902A>G	XP_011543531.1:p.Asp301Gly
XM_011545230.1:c.809A>G	XP_011543532.1:p.Asp270Gly
XM_011545231.1:c.584A>G	XP_011543533.1:p.Asp195Gly
XM_011545232.1:c.1105A>G	XP_011543534.1:p.Met369Val
XM_011545233.1:c.59A>G	XP_011543535.1:p.Asp20Gly
NM_001363591.1:c.584A>G	NP_001350520.1:p.Asp195Gly
NM_001363592.1:c.1105A>G	NP_001350521.1:p.Met369Val
NM_001363593.1:c.-71A>G	NP_001350522.1:n.-71A>G
NR_134580.1:n.1685A>G
XM_005274210.4:c.902A>G	XP_005274267.1:p.Asp301Gly
XM_005274215.4:c.584A>G	XP_005274272.1:p.Asp195Gly
XM_005274216.4:c.925A>G	XP_005274273.1:p.Met309Val
XM_005274219.4:c.867+1234A>G	XP_005274276.1:n.867+1234A>G
XM_005274221.4:c.714+2068A>G	XP_005274278.1:n.714+2068A>G
XM_011545229.3:c.902A>G	XP_011543531.1:p.Asp301Gly
XM_011545230.3:c.809A>G	XP_011543532.1:p.Asp270Gly
XM_011545233.3:c.59A>G	XP_011543535.1:p.Asp20Gly
XM_017018230.2:c.787A>G	XP_016873719.1:p.Met263Val
XR_001747952.2:n.1603A>G
XR_001747953.2:n.1557+1234A>G
XR_001747954.2:n.1404+2068A>G
XR_001748245.1:n.196+200T>C
XR_002957249.1:n.196+200T>C
NM_004183.4:c.902A>G MANE Select	NP_004174.1:p.Asp301Gly
NM_001139443.2:c.722A>G	NP_001132915.1:p.Asp241Gly
NM_001300786.2:c.688-360A>G	NP_001287715.1:n.688-360A>G
NM_001300787.2:c.722A>G	NP_001287716.1:p.Asp241Gly
NM_001363591.2:c.584A>G	NP_001350520.1:p.Asp195Gly
NM_001363593.2:c.-71A>G	NP_001350522.1:n.-71A>G
NR_134580.2:n.1218A>G