Canonical Allele Identifier: CA380844092

Gene: BEST1

Linked Data

• MyVariant Identifiers: chr11:g.61727034T>C (hg19) ; chr11:g.61959562T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959562T>C , CM000673.2:g.61959562T>C	GRCh38
NC_000011.9:g.61727034T>C , CM000673.1:g.61727034T>C	GRCh37
NC_000011.8:g.61483610T>C	NCBI36
NG_009033.1:g.14679T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.932T>C MANE Select	ENSP00000367282.4:p.Val311Ala
ENST00000378043.8:c.932T>C	ENSP00000367282.4:p.Val311Ala
ENST00000449131.6:c.752T>C	ENSP00000399709.2:p.Val251Ala
ENST00000524877.5:n.2563T>C
ENST00000524926.5:c.1135T>C	ENSP00000432681.1:p.Ser379Pro
ENST00000526988.1:c.817T>C	ENSP00000433195.1:p.Ser273Pro
ENST00000534553.5:c.164-2693T>C	ENSP00000431189.1:n.164-2693T>C
NM_001139443.1:c.752T>C	NP_001132915.1:p.Val251Ala
NM_001300786.1:c.688-330T>C	NP_001287715.1:n.688-330T>C
NM_001300787.1:c.752T>C	NP_001287716.1:p.Val251Ala
NM_004183.3:c.932T>C	NP_004174.1:p.Val311Ala
XM_005274210.2:c.932T>C	XP_005274267.1:p.Val311Ala
XM_005274215.2:c.614T>C	XP_005274272.1:p.Val205Ala
XM_005274216.2:c.955T>C	XP_005274273.1:p.Ser319Pro
XM_005274218.3:c.817T>C	XP_005274275.1:p.Ser273Pro
XM_005274219.2:c.867+1264T>C	XP_005274276.1:n.867+1264T>C
XM_005274221.2:c.714+2098T>C	XP_005274278.1:n.714+2098T>C
XM_011545229.1:c.932T>C	XP_011543531.1:p.Val311Ala
XM_011545230.1:c.839T>C	XP_011543532.1:p.Val280Ala
XM_011545231.1:c.614T>C	XP_011543533.1:p.Val205Ala
XM_011545232.1:c.1135T>C	XP_011543534.1:p.Ser379Pro
XM_011545233.1:c.89T>C	XP_011543535.1:p.Val30Ala
NM_001363591.1:c.614T>C	NP_001350520.1:p.Val205Ala
NM_001363592.1:c.1135T>C	NP_001350521.1:p.Ser379Pro
NM_001363593.1:c.-41T>C	NP_001350522.1:n.-41T>C
NR_134580.1:n.1715T>C
XM_005274210.4:c.932T>C	XP_005274267.1:p.Val311Ala
XM_005274215.4:c.614T>C	XP_005274272.1:p.Val205Ala
XM_005274216.4:c.955T>C	XP_005274273.1:p.Ser319Pro
XM_005274219.4:c.867+1264T>C	XP_005274276.1:n.867+1264T>C
XM_005274221.4:c.714+2098T>C	XP_005274278.1:n.714+2098T>C
XM_011545229.3:c.932T>C	XP_011543531.1:p.Val311Ala
XM_011545230.3:c.839T>C	XP_011543532.1:p.Val280Ala
XM_011545233.3:c.89T>C	XP_011543535.1:p.Val30Ala
XM_017018230.2:c.817T>C	XP_016873719.1:p.Ser273Pro
XR_001747952.2:n.1633T>C
XR_001747953.2:n.1557+1264T>C
XR_001747954.2:n.1404+2098T>C
XR_001748245.1:n.196+170A>G
XR_002957249.1:n.196+170A>G
NM_004183.4:c.932T>C MANE Select	NP_004174.1:p.Val311Ala
NM_001139443.2:c.752T>C	NP_001132915.1:p.Val251Ala
NM_001300786.2:c.688-330T>C	NP_001287715.1:n.688-330T>C
NM_001300787.2:c.752T>C	NP_001287716.1:p.Val251Ala
NM_001363591.2:c.614T>C	NP_001350520.1:p.Val205Ala
NM_001363593.2:c.-41T>C	NP_001350522.1:n.-41T>C
NR_134580.2:n.1248T>C