Canonical Allele Identifier: CA16619354
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 418062
ClinVar RCV Id: RCV000486180
dbSNP Id: rs1064793051

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61955192T>A , CM000673.2:g.61955192T>A GRCh38
NC_000011.9:g.61722664T>A , CM000673.1:g.61722664T>A GRCh37
NC_000011.8:g.61479240T>A NCBI36
NG_009033.1:g.10309T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000378043.9:c.238T>A MANE Select ENSP00000367282.4:p.Phe80Ile
ENST00000378043.8:c.238T>A ENSP00000367282.4:p.Phe80Ile
ENST00000449131.6:c.58T>A ENSP00000399709.2:p.Phe20Ile
ENST00000524877.5:n.154T>A
ENST00000524926.5:c.238T>A ENSP00000432681.1:p.Phe80Ile
ENST00000526988.1:c.-126T>A ENSP00000433195.1:n.-126T>A
ENST00000529265.5:n.161T>A
ENST00000533521.5:n.346T>A
ENST00000534553.5:c.-126T>A ENSP00000431189.1:n.-126T>A
NM_001139443.1:c.58T>A NP_001132915.1:p.Phe20Ile
NM_001300786.1:c.58T>A NP_001287715.1:p.Phe20Ile
NM_001300787.1:c.58T>A NP_001287716.1:p.Phe20Ile
NM_004183.3:c.238T>A NP_004174.1:p.Phe80Ile
XM_005274210.2:c.238T>A XP_005274267.1:p.Phe80Ile
XM_005274216.2:c.58T>A XP_005274273.1:p.Phe20Ile
XM_005274218.3:c.-126T>A XP_005274275.1:n.-126T>A
XM_005274219.2:c.238T>A XP_005274276.1:p.Phe80Ile
XM_005274221.2:c.238T>A XP_005274278.1:p.Phe80Ile
XM_011545229.1:c.238T>A XP_011543531.1:p.Phe80Ile
XM_011545230.1:c.145T>A XP_011543532.1:p.Phe49Ile
XM_011545231.1:c.-126T>A XP_011543533.1:n.-126T>A
XM_011545232.1:c.238T>A XP_011543534.1:p.Phe80Ile
NM_001363591.1:c.-267T>A NP_001350520.1:n.-267T>A
NM_001363592.1:c.238T>A NP_001350521.1:p.Phe80Ile
NM_001363593.1:c.-1124T>A NP_001350522.1:n.-1124T>A
NR_134580.1:n.818T>A
XM_005274210.4:c.238T>A XP_005274267.1:p.Phe80Ile
XM_005274215.4:c.-267T>A XP_005274272.1:n.-267T>A
XM_005274216.4:c.58T>A XP_005274273.1:p.Phe20Ile
XM_005274219.4:c.238T>A XP_005274276.1:p.Phe80Ile
XM_005274221.4:c.238T>A XP_005274278.1:p.Phe80Ile
XM_011545229.3:c.238T>A XP_011543531.1:p.Phe80Ile
XM_011545230.3:c.145T>A XP_011543532.1:p.Phe49Ile
XM_017018230.2:c.-267T>A XP_016873719.1:n.-267T>A
XR_001747952.2:n.736T>A
XR_001747953.2:n.928T>A
XR_001747954.2:n.928T>A
XR_002957249.1:n.2546A>T
NM_004183.4:c.238T>A MANE Select NP_004174.1:p.Phe80Ile
NM_001139443.2:c.58T>A NP_001132915.1:p.Phe20Ile
NM_001300786.2:c.58T>A NP_001287715.1:p.Phe20Ile
NM_001300787.2:c.58T>A NP_001287716.1:p.Phe20Ile
NR_134580.2:n.351T>A