Canonical Allele Identifier: CA380844130

Gene: BEST1

Linked Data

• MyVariant Identifiers: chr11:g.61727038C>G (hg19) ; chr11:g.61959566C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959566C>G , CM000673.2:g.61959566C>G	GRCh38
NC_000011.9:g.61727038C>G , CM000673.1:g.61727038C>G	GRCh37
NC_000011.8:g.61483614C>G	NCBI36
NG_009033.1:g.14683C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.936C>G MANE Select	ENSP00000367282.4:p.Asp312Glu
ENST00000378043.8:c.936C>G	ENSP00000367282.4:p.Asp312Glu
ENST00000449131.6:c.756C>G	ENSP00000399709.2:p.Asp252Glu
ENST00000524877.5:n.2567C>G
ENST00000524926.5:c.1139C>G	ENSP00000432681.1:p.Thr380Arg
ENST00000526988.1:c.821C>G	ENSP00000433195.1:p.Thr274Arg
ENST00000534553.5:c.164-2689C>G	ENSP00000431189.1:n.164-2689C>G
NM_001139443.1:c.756C>G	NP_001132915.1:p.Asp252Glu
NM_001300786.1:c.688-326C>G	NP_001287715.1:n.688-326C>G
NM_001300787.1:c.756C>G	NP_001287716.1:p.Asp252Glu
NM_004183.3:c.936C>G	NP_004174.1:p.Asp312Glu
XM_005274210.2:c.936C>G	XP_005274267.1:p.Asp312Glu
XM_005274215.2:c.618C>G	XP_005274272.1:p.Asp206Glu
XM_005274216.2:c.959C>G	XP_005274273.1:p.Thr320Arg
XM_005274218.3:c.821C>G	XP_005274275.1:p.Thr274Arg
XM_005274219.2:c.867+1268C>G	XP_005274276.1:n.867+1268C>G
XM_005274221.2:c.714+2102C>G	XP_005274278.1:n.714+2102C>G
XM_011545229.1:c.936C>G	XP_011543531.1:p.Asp312Glu
XM_011545230.1:c.843C>G	XP_011543532.1:p.Asp281Glu
XM_011545231.1:c.618C>G	XP_011543533.1:p.Asp206Glu
XM_011545232.1:c.1139C>G	XP_011543534.1:p.Thr380Arg
XM_011545233.1:c.93C>G	XP_011543535.1:p.Asp31Glu
NM_001363591.1:c.618C>G	NP_001350520.1:p.Asp206Glu
NM_001363592.1:c.1139C>G	NP_001350521.1:p.Thr380Arg
NM_001363593.1:c.-37C>G	NP_001350522.1:n.-37C>G
NR_134580.1:n.1719C>G
XM_005274210.4:c.936C>G	XP_005274267.1:p.Asp312Glu
XM_005274215.4:c.618C>G	XP_005274272.1:p.Asp206Glu
XM_005274216.4:c.959C>G	XP_005274273.1:p.Thr320Arg
XM_005274219.4:c.867+1268C>G	XP_005274276.1:n.867+1268C>G
XM_005274221.4:c.714+2102C>G	XP_005274278.1:n.714+2102C>G
XM_011545229.3:c.936C>G	XP_011543531.1:p.Asp312Glu
XM_011545230.3:c.843C>G	XP_011543532.1:p.Asp281Glu
XM_011545233.3:c.93C>G	XP_011543535.1:p.Asp31Glu
XM_017018230.2:c.821C>G	XP_016873719.1:p.Thr274Arg
XR_001747952.2:n.1637C>G
XR_001747953.2:n.1557+1268C>G
XR_001747954.2:n.1404+2102C>G
XR_001748245.1:n.196+166G>C
XR_002957249.1:n.196+166G>C
NM_004183.4:c.936C>G MANE Select	NP_004174.1:p.Asp312Glu
NM_001139443.2:c.756C>G	NP_001132915.1:p.Asp252Glu
NM_001300786.2:c.688-326C>G	NP_001287715.1:n.688-326C>G
NM_001300787.2:c.756C>G	NP_001287716.1:p.Asp252Glu
NM_001363591.2:c.618C>G	NP_001350520.1:p.Asp206Glu
NM_001363593.2:c.-37C>G	NP_001350522.1:n.-37C>G
NR_134580.2:n.1252C>G