Canonical Allele Identifier: CA1143622847
Gene: CFAP57 HGNC NCBI
EBNA1BP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.43206805C= , CM000663.2:g.43206805C= GRCh38
NC_000001.10:g.43672476C= , CM000663.1:g.43672476C= GRCh37
NC_000001.9:g.43445063C= NCBI36
NG_028079.1:g.39476C=
NG_028079.2:g.39476C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000372492.9:c.1628C= (CFAP57) MANE Select ENSP00000361570.4:p.Thr543=
ENST00000372492.8:c.1628C= (CFAP57) ENSP00000361570.4:p.Thr543=
ENST00000461557.2:n.233+4645G= (EBNA1BP2)
ENST00000466927.5:n.197+8461G= (EBNA1BP2)
ENST00000474566.1:n.420-413G= (EBNA1BP2)
ENST00000528956.5:c.1628C= (CFAP57) ENSP00000435310.1:p.Thr543=
ENST00000533339.1:c.*1527C= (CFAP57) ENSP00000432547.1:n.*1527C=
ENST00000610710.4:c.1628C= (CFAP57) ENSP00000479773.1:p.Thr543=
NM_001167965.1:c.1628C= (CFAP57) NP_001161437.1:p.Thr543=
NM_001195831.2:c.1628C= (CFAP57) NP_001182760.2:p.Thr543=
NM_152498.3:c.1628C= (CFAP57) NP_689711.2:p.Thr543=
XM_005270520.1:c.1628C= (CFAP57) XP_005270577.1:p.Thr543=
XM_006710383.1:c.1595C= (CFAP57) XP_006710446.1:p.Thr532=
XM_011540793.1:c.1628C= (CFAP57) XP_011539095.1:p.Thr543=
XM_011540794.1:c.1628C= (CFAP57) XP_011539096.1:p.Thr543=
XM_011540795.1:c.1628C= (CFAP57) XP_011539097.1:p.Thr543=
XM_011540796.1:c.1595C= (CFAP57) XP_011539098.1:p.Thr532=
XM_011540797.1:c.1565C= (CFAP57) XP_011539099.1:p.Thr522=
XM_011540798.1:c.1543-2938C= (CFAP57) XP_011539100.1:n.1543-2938C=
XM_011540799.1:c.1542+7302C= (CFAP57) XP_011539101.1:n.1542+7302C=
XM_011540800.1:c.1628C= (CFAP57) XP_011539102.1:p.Thr543=
XM_011540801.1:c.1628C= (CFAP57) XP_011539103.1:p.Thr543=
XR_947266.1:n.450-413G=
XR_947267.1:n.455-413G=
XR_947268.1:n.240-413G=
XR_947269.1:n.1064-413G=
XR_947270.1:n.214-413G=
XR_947271.1:n.885-413G=
XR_947273.1:n.448+8461G=
XR_947274.1:n.453-413G=
XM_005270520.2:c.1628C= (CFAP57) XP_005270577.1:p.Thr543=
XM_011540795.3:c.1628C= (CFAP57) XP_011539097.1:p.Thr543=
XM_011540797.2:c.1565C= (CFAP57) XP_011539099.1:p.Thr522=
XM_011540800.2:c.1628C= (CFAP57) XP_011539102.1:p.Thr543=
XM_017000421.1:c.1628C= (CFAP57) XP_016855910.1:p.Thr543=
XM_017000422.2:c.1628C= (CFAP57) XP_016855911.1:p.Thr543=
XR_001736994.2:n.1757C= (CFAP57)
XR_001738021.1:n.532-413G=
XR_001738022.1:n.529-413G=
XR_001738023.2:n.827-413G=
XR_001738024.1:n.539+8461G=
XR_947266.2:n.521-413G=
XR_947268.2:n.247-413G=
XR_947271.2:n.888-413G=
XR_947273.2:n.538+8461G=
XR_947274.2:n.827-413G=
NM_001195831.3:c.1628C= (CFAP57) NP_001182760.2:p.Thr543=
NM_001378189.1:c.1628C= (CFAP57) MANE Select NP_001365118.1:p.Thr543=