Canonical Allele Identifier: CA380831570
Community Standard Title: NM_004183.4(BEST1):c.81C>A (p.Ser27Arg)
Gene: BEST1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61951887C>A , CM000673.2:g.61951887C>A GRCh38
NC_000011.9:g.61719359C>A , CM000673.1:g.61719359C>A GRCh37
NC_000011.8:g.61475935C>A NCBI36
NG_009033.1:g.7004C>A

Transcript Alleles

HGVS Amino-acid Change
NM_004183.4:c.81C>A MANE Select NP_004174.1:p.Ser27Arg
ENST00000378043.9:c.81C>A MANE Select ENSP00000367282.4:p.Ser27Arg
NM_001139443.1:c.-29+1460C>A NP_001132915.1:n.-29+1460C>A
NM_001139443.2:c.-29+1460C>A NP_001132915.1:n.-29+1460C>A
NM_001300786.1:c.-29+1460C>A NP_001287715.1:n.-29+1460C>A
NM_001300786.2:c.-29+1460C>A NP_001287715.1:n.-29+1460C>A
NM_001300787.1:c.-29+1460C>A NP_001287716.1:n.-29+1460C>A
NM_001300787.2:c.-29+1460C>A NP_001287716.1:n.-29+1460C>A
NM_001363592.1:c.81C>A NP_001350521.1:p.Ser27Arg
NM_004183.3:c.81C>A NP_004174.1:p.Ser27Arg
NR_134580.1:n.661C>A
NR_134580.2:n.194C>A
ENST00000378043.8:c.81C>A ENSP00000367282.4:p.Ser27Arg
ENST00000449131.6:c.-29+1460C>A ENSP00000399709.2:n.-29+1460C>A
ENST00000524877.5:n.68+1460C>A
ENST00000524926.5:c.81C>A ENSP00000432681.1:p.Ser27Arg
ENST00000529265.5:n.75+1460C>A
ENST00000533521.5:n.189C>A
ENST00000534553.5:c.-212+1460C>A ENSP00000431189.1:n.-212+1460C>A
XM_005274210.2:c.81C>A XP_005274267.1:p.Ser27Arg
XM_005274210.4:c.81C>A XP_005274267.1:p.Ser27Arg
XM_005274216.2:c.-29+1460C>A XP_005274273.1:n.-29+1460C>A
XM_005274216.4:c.-29+1460C>A XP_005274273.1:n.-29+1460C>A
XM_005274218.3:c.-212+1460C>A XP_005274275.1:n.-212+1460C>A
XM_005274219.2:c.81C>A XP_005274276.1:p.Ser27Arg
XM_005274219.4:c.81C>A XP_005274276.1:p.Ser27Arg
XM_005274221.2:c.81C>A XP_005274278.1:p.Ser27Arg
XM_005274221.4:c.81C>A XP_005274278.1:p.Ser27Arg
XM_011545229.1:c.81C>A XP_011543531.1:p.Ser27Arg
XM_011545229.3:c.81C>A XP_011543531.1:p.Ser27Arg
XM_011545230.1:c.60-3220C>A XP_011543532.1:n.60-3220C>A
XM_011545230.3:c.60-3220C>A XP_011543532.1:n.60-3220C>A
XM_011545231.1:c.-212+1460C>A XP_011543533.1:n.-212+1460C>A
XM_011545232.1:c.81C>A XP_011543534.1:p.Ser27Arg
XR_001747952.2:n.650+1460C>A
XR_001747953.2:n.771C>A
XR_001747954.2:n.771C>A