Canonical Allele Identifier: CA474556989

Gene: BEST1

Linked Data

• MyVariant Identifiers: chr11:g.61722624T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61955152T>A , CM000673.2:g.61955152T>A	GRCh38
NC_000011.9:g.61722624T>A , CM000673.1:g.61722624T>A	GRCh37
NC_000011.8:g.61479200T>A	NCBI36
NG_009033.1:g.10269T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.198T>A MANE Select	ENSP00000367282.4:p.Thr66=
ENST00000378043.8:c.198T>A	ENSP00000367282.4:p.Thr66=
ENST00000449131.6:c.18T>A	ENSP00000399709.2:p.Thr6=
ENST00000524877.5:n.114T>A
ENST00000524926.5:c.198T>A	ENSP00000432681.1:p.Thr66=
ENST00000529265.5:n.121T>A
ENST00000533521.5:n.306T>A
ENST00000534553.5:c.-166T>A	ENSP00000431189.1:n.-166T>A
NM_001139443.1:c.18T>A	NP_001132915.1:p.Thr6=
NM_001300786.1:c.18T>A	NP_001287715.1:p.Thr6=
NM_001300787.1:c.18T>A	NP_001287716.1:p.Thr6=
NM_004183.3:c.198T>A	NP_004174.1:p.Thr66=
XM_005274210.2:c.198T>A	XP_005274267.1:p.Thr66=
XM_005274216.2:c.18T>A	XP_005274273.1:p.Thr6=
XM_005274218.3:c.-166T>A	XP_005274275.1:n.-166T>A
XM_005274219.2:c.198T>A	XP_005274276.1:p.Thr66=
XM_005274221.2:c.198T>A	XP_005274278.1:p.Thr66=
XM_011545229.1:c.198T>A	XP_011543531.1:p.Thr66=
XM_011545230.1:c.105T>A	XP_011543532.1:p.Thr35=
XM_011545231.1:c.-166T>A	XP_011543533.1:n.-166T>A
XM_011545232.1:c.198T>A	XP_011543534.1:p.Thr66=
NM_001363591.1:c.-307T>A	NP_001350520.1:n.-307T>A
NM_001363592.1:c.198T>A	NP_001350521.1:p.Thr66=
NM_001363593.1:c.-1164T>A	NP_001350522.1:n.-1164T>A
NR_134580.1:n.778T>A
XM_005274210.4:c.198T>A	XP_005274267.1:p.Thr66=
XM_005274215.4:c.-307T>A	XP_005274272.1:n.-307T>A
XM_005274216.4:c.18T>A	XP_005274273.1:p.Thr6=
XM_005274219.4:c.198T>A	XP_005274276.1:p.Thr66=
XM_005274221.4:c.198T>A	XP_005274278.1:p.Thr66=
XM_011545229.3:c.198T>A	XP_011543531.1:p.Thr66=
XM_011545230.3:c.105T>A	XP_011543532.1:p.Thr35=
XM_017018230.2:c.-307T>A	XP_016873719.1:n.-307T>A
XR_001747952.2:n.696T>A
XR_001747953.2:n.888T>A
XR_001747954.2:n.888T>A
XR_002957249.1:n.2586A>T
NM_004183.4:c.198T>A MANE Select	NP_004174.1:p.Thr66=
NM_001139443.2:c.18T>A	NP_001132915.1:p.Thr6=
NM_001300786.2:c.18T>A	NP_001287715.1:p.Thr6=
NM_001300787.2:c.18T>A	NP_001287716.1:p.Thr6=
NR_134580.2:n.311T>A