Canonical Allele Identifier: CA503800798
Community Standard Title: NM_020964.3(EPG5):c.5409A>C (p.Pro1803=)
Gene: EPG5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.45882383T>G , CM000680.2:g.45882383T>G GRCh38
NC_000018.9:g.43462348T>G , CM000680.1:g.43462348T>G GRCh37
NC_000018.8:g.41716346T>G NCBI36
NG_042838.1:g.89957A>C

Transcript Alleles

HGVS Amino-acid Change
NM_020964.3:c.5409A>C MANE Select NP_066015.2:p.Pro1803=
ENST00000282041.11:c.5409A>C MANE Select ENSP00000282041.4:p.Pro1803=
NM_020964.2:c.5409A>C NP_066015.2:p.Pro1803=
ENST00000282041.9:c.5409A>C ENSP00000282041.4:p.Pro1803=
ENST00000585906.5:n.2188A>C
ENST00000586655.2:n.3670A>C
ENST00000587884.1:c.*1149A>C ENSP00000466990.1:n.*1149A>C
ENST00000587884.2:c.5535A>C ENSP00000466990.2:n.5535A>C
ENST00000587973.2:n.1274A>C
ENST00000590884.5:c.*4A>C ENSP00000466403.1:n.*4A>C
ENST00000590884.6:c.5353A>C ENSP00000466403.2:n.5353A>C
ENST00000592272.5:c.2034A>C ENSP00000467464.1:p.Pro678=
ENST00000592272.6:c.5409A>C ENSP00000467464.2:p.Pro1803=
ENST00000696481.1:n.2041A>C
ENST00000696482.1:c.5149A>C ENSP00000512656.1:n.5149A>C
ENST00000696483.1:c.5409A>C ENSP00000512657.1:p.Pro1803=
ENST00000696484.1:c.5409A>C ENSP00000512658.1:p.Pro1803=
ENST00000696485.1:c.*4A>C ENSP00000512659.1:n.*4A>C
ENST00000696489.1:c.5409A>C ENSP00000512660.1:p.Pro1803=
ENST00000696490.1:c.5409A>C ENSP00000512661.1:p.Pro1803=
XM_011526120.1:c.5436A>C XP_011524422.1:p.Pro1812=
XM_011526121.1:c.5436A>C XP_011524423.1:p.Pro1812=
XM_011526122.1:c.5409A>C XP_011524424.1:p.Pro1803=
XM_011526123.1:c.5436A>C XP_011524425.1:p.Pro1812=
XM_011526124.1:c.5436A>C XP_011524426.1:p.Pro1812=
XM_011526125.1:c.5295A>C XP_011524427.1:p.Pro1765=
XM_011526126.1:c.4371A>C XP_011524428.1:p.Pro1457=
XM_011526127.1:c.5436A>C XP_011524429.1:p.Pro1812=
XM_011526128.1:c.*4A>C XP_011524430.1:n.*4A>C
XM_017025889.1:c.5409A>C XP_016881378.1:p.Pro1803=
XM_017025890.2:c.5409A>C XP_016881379.1:p.Pro1803=
XM_017025891.1:c.5268A>C XP_016881380.1:p.Pro1756=
XM_017025892.1:c.4344A>C XP_016881381.1:p.Pro1448=
XM_017025893.1:c.2034A>C XP_016881382.1:p.Pro678=
XR_001753256.1:n.5491A>C
XR_001753257.1:n.5435A>C
XR_935244.1:n.5509A>C