Canonical Allele Identifier: CA402344825

Gene: EPG5

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45882391G>A , CM000680.2:g.45882391G>A	GRCh38
NC_000018.9:g.43462356G>A , CM000680.1:g.43462356G>A	GRCh37
NC_000018.8:g.41716354G>A	NCBI36
NG_042838.1:g.89949C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020964.3:c.5401C>T MANE Select	NP_066015.2:p.Leu1801Phe
ENST00000282041.11:c.5401C>T MANE Select	ENSP00000282041.4:p.Leu1801Phe
NM_020964.2:c.5401C>T	NP_066015.2:p.Leu1801Phe
ENST00000282041.9:c.5401C>T	ENSP00000282041.4:p.Leu1801Phe
ENST00000585906.5:n.2180C>T
ENST00000586655.2:n.3662C>T
ENST00000587884.1:c.*1141C>T	ENSP00000466990.1:n.*1141C>T
ENST00000587884.2:c.5527C>T	ENSP00000466990.2:n.5527C>T
ENST00000587973.2:n.1266C>T
ENST00000590884.5:c.1970C>T	ENSP00000466403.1:p.Pro657Leu
ENST00000590884.6:c.5345C>T	ENSP00000466403.2:p.Pro1782Leu
ENST00000592272.5:c.2026C>T	ENSP00000467464.1:p.Leu676Phe
ENST00000592272.6:c.5401C>T	ENSP00000467464.2:p.Leu1801Phe
ENST00000696481.1:n.2033C>T
ENST00000696482.1:c.5141C>T	ENSP00000512656.1:n.5141C>T
ENST00000696483.1:c.5401C>T	ENSP00000512657.1:p.Leu1801Phe
ENST00000696484.1:c.5401C>T	ENSP00000512658.1:p.Leu1801Phe
ENST00000696485.1:c.5345C>T	ENSP00000512659.1:p.Pro1782Leu
ENST00000696489.1:c.5401C>T	ENSP00000512660.1:p.Leu1801Phe
ENST00000696490.1:c.5401C>T	ENSP00000512661.1:p.Leu1801Phe
XM_011526120.1:c.5428C>T	XP_011524422.1:p.Leu1810Phe
XM_011526121.1:c.5428C>T	XP_011524423.1:p.Leu1810Phe
XM_011526122.1:c.5401C>T	XP_011524424.1:p.Leu1801Phe
XM_011526123.1:c.5428C>T	XP_011524425.1:p.Leu1810Phe
XM_011526124.1:c.5428C>T	XP_011524426.1:p.Leu1810Phe
XM_011526125.1:c.5287C>T	XP_011524427.1:p.Leu1763Phe
XM_011526126.1:c.4363C>T	XP_011524428.1:p.Leu1455Phe
XM_011526127.1:c.5428C>T	XP_011524429.1:p.Leu1810Phe
XM_011526128.1:c.5372C>T	XP_011524430.1:p.Pro1791Leu
XM_017025889.1:c.5401C>T	XP_016881378.1:p.Leu1801Phe
XM_017025890.2:c.5401C>T	XP_016881379.1:p.Leu1801Phe
XM_017025891.1:c.5260C>T	XP_016881380.1:p.Leu1754Phe
XM_017025892.1:c.4336C>T	XP_016881381.1:p.Leu1446Phe
XM_017025893.1:c.2026C>T	XP_016881382.1:p.Leu676Phe
XR_001753256.1:n.5483C>T
XR_001753257.1:n.5427C>T
XR_935244.1:n.5501C>T