Canonical Allele Identifier: CA380843953

Gene: BEST1

Linked Data

• MyVariant Identifiers: chr11:g.61727016T>A (hg19) ; chr11:g.61959544T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959544T>A , CM000673.2:g.61959544T>A	GRCh38
NC_000011.9:g.61727016T>A , CM000673.1:g.61727016T>A	GRCh37
NC_000011.8:g.61483592T>A	NCBI36
NG_009033.1:g.14661T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.914T>A MANE Select	ENSP00000367282.4:p.Phe305Tyr
ENST00000378043.8:c.914T>A	ENSP00000367282.4:p.Phe305Tyr
ENST00000449131.6:c.734T>A	ENSP00000399709.2:p.Phe245Tyr
ENST00000524877.5:n.2545T>A
ENST00000524926.5:c.1117T>A	ENSP00000432681.1:p.Leu373Met
ENST00000526988.1:c.799T>A	ENSP00000433195.1:p.Leu267Met
ENST00000534553.5:c.164-2711T>A	ENSP00000431189.1:n.164-2711T>A
NM_001139443.1:c.734T>A	NP_001132915.1:p.Phe245Tyr
NM_001300786.1:c.688-348T>A	NP_001287715.1:n.688-348T>A
NM_001300787.1:c.734T>A	NP_001287716.1:p.Phe245Tyr
NM_004183.3:c.914T>A	NP_004174.1:p.Phe305Tyr
XM_005274210.2:c.914T>A	XP_005274267.1:p.Phe305Tyr
XM_005274215.2:c.596T>A	XP_005274272.1:p.Phe199Tyr
XM_005274216.2:c.937T>A	XP_005274273.1:p.Leu313Met
XM_005274218.3:c.799T>A	XP_005274275.1:p.Leu267Met
XM_005274219.2:c.867+1246T>A	XP_005274276.1:n.867+1246T>A
XM_005274221.2:c.714+2080T>A	XP_005274278.1:n.714+2080T>A
XM_011545229.1:c.914T>A	XP_011543531.1:p.Phe305Tyr
XM_011545230.1:c.821T>A	XP_011543532.1:p.Phe274Tyr
XM_011545231.1:c.596T>A	XP_011543533.1:p.Phe199Tyr
XM_011545232.1:c.1117T>A	XP_011543534.1:p.Leu373Met
XM_011545233.1:c.71T>A	XP_011543535.1:p.Phe24Tyr
NM_001363591.1:c.596T>A	NP_001350520.1:p.Phe199Tyr
NM_001363592.1:c.1117T>A	NP_001350521.1:p.Leu373Met
NM_001363593.1:c.-59T>A	NP_001350522.1:n.-59T>A
NR_134580.1:n.1697T>A
XM_005274210.4:c.914T>A	XP_005274267.1:p.Phe305Tyr
XM_005274215.4:c.596T>A	XP_005274272.1:p.Phe199Tyr
XM_005274216.4:c.937T>A	XP_005274273.1:p.Leu313Met
XM_005274219.4:c.867+1246T>A	XP_005274276.1:n.867+1246T>A
XM_005274221.4:c.714+2080T>A	XP_005274278.1:n.714+2080T>A
XM_011545229.3:c.914T>A	XP_011543531.1:p.Phe305Tyr
XM_011545230.3:c.821T>A	XP_011543532.1:p.Phe274Tyr
XM_011545233.3:c.71T>A	XP_011543535.1:p.Phe24Tyr
XM_017018230.2:c.799T>A	XP_016873719.1:p.Leu267Met
XR_001747952.2:n.1615T>A
XR_001747953.2:n.1557+1246T>A
XR_001747954.2:n.1404+2080T>A
XR_001748245.1:n.196+188A>T
XR_002957249.1:n.196+188A>T
NM_004183.4:c.914T>A MANE Select	NP_004174.1:p.Phe305Tyr
NM_001139443.2:c.734T>A	NP_001132915.1:p.Phe245Tyr
NM_001300786.2:c.688-348T>A	NP_001287715.1:n.688-348T>A
NM_001300787.2:c.734T>A	NP_001287716.1:p.Phe245Tyr
NM_001363591.2:c.596T>A	NP_001350520.1:p.Phe199Tyr
NM_001363593.2:c.-59T>A	NP_001350522.1:n.-59T>A
NR_134580.2:n.1230T>A