Canonical Allele Identifier: CA402344813

Gene: EPG5

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45882385G>C , CM000680.2:g.45882385G>C	GRCh38
NC_000018.9:g.43462350G>C , CM000680.1:g.43462350G>C	GRCh37
NC_000018.8:g.41716348G>C	NCBI36
NG_042838.1:g.89955C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_020964.3:c.5407C>G MANE Select	NP_066015.2:p.Pro1803Ala
ENST00000282041.11:c.5407C>G MANE Select	ENSP00000282041.4:p.Pro1803Ala
NM_020964.2:c.5407C>G	NP_066015.2:p.Pro1803Ala
ENST00000282041.9:c.5407C>G	ENSP00000282041.4:p.Pro1803Ala
ENST00000585906.5:n.2186C>G
ENST00000586655.2:n.3668C>G
ENST00000587884.1:c.*1147C>G	ENSP00000466990.1:n.*1147C>G
ENST00000587884.2:c.5533C>G	ENSP00000466990.2:n.5533C>G
ENST00000587973.2:n.1272C>G
ENST00000590884.5:c.*2C>G	ENSP00000466403.1:n.*2C>G
ENST00000590884.6:c.5351C>G	ENSP00000466403.2:n.5351C>G
ENST00000592272.5:c.2032C>G	ENSP00000467464.1:p.Pro678Ala
ENST00000592272.6:c.5407C>G	ENSP00000467464.2:p.Pro1803Ala
ENST00000696481.1:n.2039C>G
ENST00000696482.1:c.5147C>G	ENSP00000512656.1:n.5147C>G
ENST00000696483.1:c.5407C>G	ENSP00000512657.1:p.Pro1803Ala
ENST00000696484.1:c.5407C>G	ENSP00000512658.1:p.Pro1803Ala
ENST00000696485.1:c.*2C>G	ENSP00000512659.1:n.*2C>G
ENST00000696489.1:c.5407C>G	ENSP00000512660.1:p.Pro1803Ala
ENST00000696490.1:c.5407C>G	ENSP00000512661.1:p.Pro1803Ala
XM_011526120.1:c.5434C>G	XP_011524422.1:p.Pro1812Ala
XM_011526121.1:c.5434C>G	XP_011524423.1:p.Pro1812Ala
XM_011526122.1:c.5407C>G	XP_011524424.1:p.Pro1803Ala
XM_011526123.1:c.5434C>G	XP_011524425.1:p.Pro1812Ala
XM_011526124.1:c.5434C>G	XP_011524426.1:p.Pro1812Ala
XM_011526125.1:c.5293C>G	XP_011524427.1:p.Pro1765Ala
XM_011526126.1:c.4369C>G	XP_011524428.1:p.Pro1457Ala
XM_011526127.1:c.5434C>G	XP_011524429.1:p.Pro1812Ala
XM_011526128.1:c.*2C>G	XP_011524430.1:n.*2C>G
XM_017025889.1:c.5407C>G	XP_016881378.1:p.Pro1803Ala
XM_017025890.2:c.5407C>G	XP_016881379.1:p.Pro1803Ala
XM_017025891.1:c.5266C>G	XP_016881380.1:p.Pro1756Ala
XM_017025892.1:c.4342C>G	XP_016881381.1:p.Pro1448Ala
XM_017025893.1:c.2032C>G	XP_016881382.1:p.Pro678Ala
XR_001753256.1:n.5489C>G
XR_001753257.1:n.5433C>G
XR_935244.1:n.5507C>G