Canonical Allele Identifier: CA380843768

Gene: BEST1

Linked Data

• MyVariant Identifiers: chr11:g.61726992C>T (hg19) ; chr11:g.61959520C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959520C>T , CM000673.2:g.61959520C>T	GRCh38
NC_000011.9:g.61726992C>T , CM000673.1:g.61726992C>T	GRCh37
NC_000011.8:g.61483568C>T	NCBI36
NG_009033.1:g.14637C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.890C>T MANE Select	ENSP00000367282.4:p.Pro297Leu
ENST00000378043.8:c.890C>T	ENSP00000367282.4:p.Pro297Leu
ENST00000449131.6:c.710C>T	ENSP00000399709.2:p.Pro237Leu
ENST00000524877.5:n.2521C>T
ENST00000524926.5:c.1093C>T	ENSP00000432681.1:p.Pro365Ser
ENST00000526988.1:c.775C>T	ENSP00000433195.1:p.Pro259Ser
ENST00000534553.5:c.164-2735C>T	ENSP00000431189.1:n.164-2735C>T
NM_001139443.1:c.710C>T	NP_001132915.1:p.Pro237Leu
NM_001300786.1:c.688-372C>T	NP_001287715.1:n.688-372C>T
NM_001300787.1:c.710C>T	NP_001287716.1:p.Pro237Leu
NM_004183.3:c.890C>T	NP_004174.1:p.Pro297Leu
XM_005274210.2:c.890C>T	XP_005274267.1:p.Pro297Leu
XM_005274215.2:c.572C>T	XP_005274272.1:p.Pro191Leu
XM_005274216.2:c.913C>T	XP_005274273.1:p.Pro305Ser
XM_005274218.3:c.775C>T	XP_005274275.1:p.Pro259Ser
XM_005274219.2:c.867+1222C>T	XP_005274276.1:n.867+1222C>T
XM_005274221.2:c.714+2056C>T	XP_005274278.1:n.714+2056C>T
XM_011545229.1:c.890C>T	XP_011543531.1:p.Pro297Leu
XM_011545230.1:c.797C>T	XP_011543532.1:p.Pro266Leu
XM_011545231.1:c.572C>T	XP_011543533.1:p.Pro191Leu
XM_011545232.1:c.1093C>T	XP_011543534.1:p.Pro365Ser
XM_011545233.1:c.47C>T	XP_011543535.1:p.Pro16Leu
NM_001363591.1:c.572C>T	NP_001350520.1:p.Pro191Leu
NM_001363592.1:c.1093C>T	NP_001350521.1:p.Pro365Ser
NM_001363593.1:c.-83C>T	NP_001350522.1:n.-83C>T
NR_134580.1:n.1673C>T
XM_005274210.4:c.890C>T	XP_005274267.1:p.Pro297Leu
XM_005274215.4:c.572C>T	XP_005274272.1:p.Pro191Leu
XM_005274216.4:c.913C>T	XP_005274273.1:p.Pro305Ser
XM_005274219.4:c.867+1222C>T	XP_005274276.1:n.867+1222C>T
XM_005274221.4:c.714+2056C>T	XP_005274278.1:n.714+2056C>T
XM_011545229.3:c.890C>T	XP_011543531.1:p.Pro297Leu
XM_011545230.3:c.797C>T	XP_011543532.1:p.Pro266Leu
XM_011545233.3:c.47C>T	XP_011543535.1:p.Pro16Leu
XM_017018230.2:c.775C>T	XP_016873719.1:p.Pro259Ser
XR_001747952.2:n.1591C>T
XR_001747953.2:n.1557+1222C>T
XR_001747954.2:n.1404+2056C>T
XR_001748245.1:n.196+212G>A
XR_002957249.1:n.196+212G>A
NM_004183.4:c.890C>T MANE Select	NP_004174.1:p.Pro297Leu
NM_001139443.2:c.710C>T	NP_001132915.1:p.Pro237Leu
NM_001300786.2:c.688-372C>T	NP_001287715.1:n.688-372C>T
NM_001300787.2:c.710C>T	NP_001287716.1:p.Pro237Leu
NM_001363591.2:c.572C>T	NP_001350520.1:p.Pro191Leu
NM_001363593.2:c.-83C>T	NP_001350522.1:n.-83C>T
NR_134580.2:n.1206C>T