Canonical Allele Identifier: CA380840554

Gene: BEST1

Linked Data

• MyVariant Identifiers: chr11:g.61725784G>C (hg19) ; chr11:g.61958312G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61958312G>C , CM000673.2:g.61958312G>C	GRCh38
NC_000011.9:g.61725784G>C , CM000673.1:g.61725784G>C	GRCh37
NC_000011.8:g.61482360G>C	NCBI36
NG_009033.1:g.13429G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.867+14G>C MANE Select	ENSP00000367282.4:n.867+14G>C
ENST00000378043.8:c.867+14G>C	ENSP00000367282.4:n.867+14G>C
ENST00000449131.6:c.687+14G>C	ENSP00000399709.2:n.687+14G>C
ENST00000524877.5:n.1313G>C
ENST00000524926.5:c.881G>C	ENSP00000432681.1:p.Arg294Thr
ENST00000526988.1:c.563G>C	ENSP00000433195.1:p.Arg188Thr
ENST00000529265.5:n.804G>C
ENST00000534553.5:c.163+2361G>C	ENSP00000431189.1:n.163+2361G>C
NM_001139443.1:c.687+14G>C	NP_001132915.1:n.687+14G>C
NM_001300786.1:c.687+14G>C	NP_001287715.1:n.687+14G>C
NM_001300787.1:c.687+14G>C	NP_001287716.1:n.687+14G>C
NM_004183.3:c.867+14G>C	NP_004174.1:n.867+14G>C
XM_005274210.2:c.867+14G>C	XP_005274267.1:n.867+14G>C
XM_005274215.2:c.549+14G>C	XP_005274272.1:n.549+14G>C
XM_005274216.2:c.701G>C	XP_005274273.1:p.Arg234Thr
XM_005274218.3:c.563G>C	XP_005274275.1:p.Arg188Thr
XM_005274219.2:c.867+14G>C	XP_005274276.1:n.867+14G>C
XM_005274221.2:c.714+848G>C	XP_005274278.1:n.714+848G>C
XM_011545229.1:c.867+14G>C	XP_011543531.1:n.867+14G>C
XM_011545230.1:c.774+14G>C	XP_011543532.1:n.774+14G>C
XM_011545231.1:c.549+14G>C	XP_011543533.1:n.549+14G>C
XM_011545232.1:c.881G>C	XP_011543534.1:p.Arg294Thr
NM_001363591.1:c.549+14G>C	NP_001350520.1:n.549+14G>C
NM_001363592.1:c.881G>C	NP_001350521.1:p.Arg294Thr
NM_001363593.1:c.-295G>C	NP_001350522.1:n.-295G>C
NR_134580.1:n.1461G>C
XM_005274210.4:c.867+14G>C	XP_005274267.1:n.867+14G>C
XM_005274215.4:c.549+14G>C	XP_005274272.1:n.549+14G>C
XM_005274216.4:c.701G>C	XP_005274273.1:p.Arg234Thr
XM_005274219.4:c.867+14G>C	XP_005274276.1:n.867+14G>C
XM_005274221.4:c.714+848G>C	XP_005274278.1:n.714+848G>C
XM_011545229.3:c.867+14G>C	XP_011543531.1:n.867+14G>C
XM_011545230.3:c.774+14G>C	XP_011543532.1:n.774+14G>C
XM_017018230.2:c.563G>C	XP_016873719.1:p.Arg188Thr
XR_001747952.2:n.1379G>C
XR_001747953.2:n.1557+14G>C
XR_001747954.2:n.1404+848G>C
XR_001748245.1:n.417C>G
XR_002957249.1:n.417C>G
NM_004183.4:c.867+14G>C MANE Select	NP_004174.1:n.867+14G>C
NM_001139443.2:c.687+14G>C	NP_001132915.1:n.687+14G>C
NM_001300786.2:c.687+14G>C	NP_001287715.1:n.687+14G>C
NM_001300787.2:c.687+14G>C	NP_001287716.1:n.687+14G>C
NM_001363591.2:c.549+14G>C	NP_001350520.1:n.549+14G>C
NM_001363593.2:c.-295G>C	NP_001350522.1:n.-295G>C
NR_134580.2:n.994G>C