Canonical Allele Identifier: CA804774
Community Standard Title: NM_001378189.1(CFAP57):c.1762C>T (p.Arg588Ter)
Gene: CFAP57 HGNC NCBI
EBNA1BP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.43209749C>T , CM000663.2:g.43209749C>T GRCh38
NC_000001.10:g.43675420C>T , CM000663.1:g.43675420C>T GRCh37
NC_000001.9:g.43448007C>T NCBI36
NG_028079.1:g.42420C>T
NG_028079.2:g.42420C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001378189.1:c.1762C>T (CFAP57) MANE Select NP_001365118.1:p.Arg588Ter
ENST00000372492.9:c.1762C>T (CFAP57) MANE Select ENSP00000361570.4:p.Arg588Ter
NM_001167965.1:c.1762C>T (CFAP57) NP_001161437.1:p.Arg588Ter
NM_001195831.2:c.1762C>T (CFAP57) NP_001182760.2:p.Arg588Ter
NM_001195831.3:c.1762C>T (CFAP57) NP_001182760.2:p.Arg588Ter
NM_152498.3:c.1762C>T (CFAP57) NP_689711.2:p.Arg588Ter
ENST00000372492.8:c.1762C>T (CFAP57) ENSP00000361570.4:p.Arg588Ter
ENST00000461557.2:n.233+1701G>A (EBNA1BP2)
ENST00000466927.5:n.197+5517G>A (EBNA1BP2)
ENST00000474566.1:n.419+1701G>A (EBNA1BP2)
ENST00000528956.5:c.1762C>T (CFAP57) ENSP00000435310.1:p.Arg588Ter
ENST00000533339.1:c.*1661C>T (CFAP57) ENSP00000432547.1:n.*1661C>T
ENST00000610710.4:c.1762C>T (CFAP57) ENSP00000479773.1:p.Arg588Ter
XM_005270520.1:c.1762C>T (CFAP57) XP_005270577.1:p.Arg588Ter
XM_005270520.2:c.1762C>T (CFAP57) XP_005270577.1:p.Arg588Ter
XM_006710383.1:c.1729C>T (CFAP57) XP_006710446.1:p.Arg577Ter
XM_011540793.1:c.1762C>T (CFAP57) XP_011539095.1:p.Arg588Ter
XM_011540794.1:c.1762C>T (CFAP57) XP_011539096.1:p.Arg588Ter
XM_011540795.1:c.1762C>T (CFAP57) XP_011539097.1:p.Arg588Ter
XM_011540795.3:c.1762C>T (CFAP57) XP_011539097.1:p.Arg588Ter
XM_011540796.1:c.1729C>T (CFAP57) XP_011539098.1:p.Arg577Ter
XM_011540797.1:c.1699C>T (CFAP57) XP_011539099.1:p.Arg567Ter
XM_011540797.2:c.1699C>T (CFAP57) XP_011539099.1:p.Arg567Ter
XM_011540798.1:c.1549C>T (CFAP57) XP_011539100.1:p.Arg517Ter
XM_011540799.1:c.1543-5506C>T (CFAP57) XP_011539101.1:n.1543-5506C>T
XM_011540800.1:c.1762C>T (CFAP57) XP_011539102.1:p.Arg588Ter
XM_011540800.2:c.1762C>T (CFAP57) XP_011539102.1:p.Arg588Ter
XM_011540801.1:c.1762C>T (CFAP57) XP_011539103.1:p.Arg588Ter
XM_017000421.1:c.1755+2817C>T (CFAP57) XP_016855910.1:n.1755+2817C>T
XM_017000422.2:c.1762C>T (CFAP57) XP_016855911.1:p.Arg588Ter
XR_001736994.2:n.1891C>T (CFAP57)
XR_001738021.1:n.532-3357G>A
XR_001738022.1:n.529-3357G>A
XR_001738023.2:n.827-3357G>A
XR_001738024.1:n.539+5517G>A
XR_947266.1:n.450-3357G>A
XR_947266.2:n.521-3357G>A
XR_947267.1:n.455-3357G>A
XR_947268.1:n.240-3357G>A
XR_947268.2:n.247-3357G>A
XR_947269.1:n.1064-3357G>A
XR_947270.1:n.214-3357G>A
XR_947271.1:n.885-3357G>A
XR_947271.2:n.888-3357G>A
XR_947273.1:n.448+5517G>A
XR_947273.2:n.538+5517G>A
XR_947274.1:n.453-3357G>A
XR_947274.2:n.827-3357G>A