Canonical Allele Identifier: CA227783
Community Standard Title: NM_004183.4(BEST1):c.47C>T (p.Ser16Phe)
Gene: BEST1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61951853C>T , CM000673.2:g.61951853C>T GRCh38
NC_000011.9:g.61719325C>T , CM000673.1:g.61719325C>T GRCh37
NC_000011.8:g.61475901C>T NCBI36
NG_009033.1:g.6970C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004183.4:c.47C>T MANE Select NP_004174.1:p.Ser16Phe
ENST00000378043.9:c.47C>T MANE Select ENSP00000367282.4:p.Ser16Phe
NM_001139443.1:c.-29+1426C>T NP_001132915.1:n.-29+1426C>T
NM_001139443.2:c.-29+1426C>T NP_001132915.1:n.-29+1426C>T
NM_001300786.1:c.-29+1426C>T NP_001287715.1:n.-29+1426C>T
NM_001300786.2:c.-29+1426C>T NP_001287715.1:n.-29+1426C>T
NM_001300787.1:c.-29+1426C>T NP_001287716.1:n.-29+1426C>T
NM_001300787.2:c.-29+1426C>T NP_001287716.1:n.-29+1426C>T
NM_001363592.1:c.47C>T NP_001350521.1:p.Ser16Phe
NM_004183.3:c.47C>T NP_004174.1:p.Ser16Phe
NR_134580.1:n.627C>T
NR_134580.2:n.160C>T
ENST00000378043.8:c.47C>T ENSP00000367282.4:p.Ser16Phe
ENST00000449131.6:c.-29+1426C>T ENSP00000399709.2:n.-29+1426C>T
ENST00000524877.5:n.68+1426C>T
ENST00000524926.5:c.47C>T ENSP00000432681.1:p.Ser16Phe
ENST00000529265.5:n.75+1426C>T
ENST00000533521.5:n.155C>T
ENST00000534553.5:c.-212+1426C>T ENSP00000431189.1:n.-212+1426C>T
XM_005274210.2:c.47C>T XP_005274267.1:p.Ser16Phe
XM_005274210.4:c.47C>T XP_005274267.1:p.Ser16Phe
XM_005274216.2:c.-29+1426C>T XP_005274273.1:n.-29+1426C>T
XM_005274216.4:c.-29+1426C>T XP_005274273.1:n.-29+1426C>T
XM_005274218.3:c.-212+1426C>T XP_005274275.1:n.-212+1426C>T
XM_005274219.2:c.47C>T XP_005274276.1:p.Ser16Phe
XM_005274219.4:c.47C>T XP_005274276.1:p.Ser16Phe
XM_005274221.2:c.47C>T XP_005274278.1:p.Ser16Phe
XM_005274221.4:c.47C>T XP_005274278.1:p.Ser16Phe
XM_011545229.1:c.47C>T XP_011543531.1:p.Ser16Phe
XM_011545229.3:c.47C>T XP_011543531.1:p.Ser16Phe
XM_011545230.1:c.60-3254C>T XP_011543532.1:n.60-3254C>T
XM_011545230.3:c.60-3254C>T XP_011543532.1:n.60-3254C>T
XM_011545231.1:c.-212+1426C>T XP_011543533.1:n.-212+1426C>T
XM_011545232.1:c.47C>T XP_011543534.1:p.Ser16Phe
XR_001747952.2:n.650+1426C>T
XR_001747953.2:n.737C>T
XR_001747954.2:n.737C>T