Canonical Allele Identifier: CA402344786

Gene: EPG5

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45882373T>G , CM000680.2:g.45882373T>G	GRCh38
NC_000018.9:g.43462338T>G , CM000680.1:g.43462338T>G	GRCh37
NC_000018.8:g.41716336T>G	NCBI36
NG_042838.1:g.89967A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_020964.3:c.5419A>C MANE Select	NP_066015.2:p.Ile1807Leu
ENST00000282041.11:c.5419A>C MANE Select	ENSP00000282041.4:p.Ile1807Leu
NM_020964.2:c.5419A>C	NP_066015.2:p.Ile1807Leu
ENST00000282041.9:c.5419A>C	ENSP00000282041.4:p.Ile1807Leu
ENST00000585906.5:n.2198A>C
ENST00000586655.2:n.3680A>C
ENST00000587884.1:c.*1159A>C	ENSP00000466990.1:n.*1159A>C
ENST00000587884.2:c.5545A>C	ENSP00000466990.2:n.5545A>C
ENST00000587973.2:n.1284A>C
ENST00000590884.5:c.*14A>C	ENSP00000466403.1:n.*14A>C
ENST00000590884.6:c.5363A>C	ENSP00000466403.2:n.5363A>C
ENST00000592272.5:c.2044A>C	ENSP00000467464.1:p.Ile682Leu
ENST00000592272.6:c.5419A>C	ENSP00000467464.2:p.Ile1807Leu
ENST00000696481.1:n.2051A>C
ENST00000696482.1:c.5159A>C	ENSP00000512656.1:n.5159A>C
ENST00000696483.1:c.5419A>C	ENSP00000512657.1:p.Ile1807Leu
ENST00000696484.1:c.5419A>C	ENSP00000512658.1:p.Ile1807Leu
ENST00000696485.1:c.*14A>C	ENSP00000512659.1:n.*14A>C
ENST00000696489.1:c.5419A>C	ENSP00000512660.1:p.Ile1807Leu
ENST00000696490.1:c.5419A>C	ENSP00000512661.1:p.Ile1807Leu
XM_011526120.1:c.5446A>C	XP_011524422.1:p.Ile1816Leu
XM_011526121.1:c.5446A>C	XP_011524423.1:p.Ile1816Leu
XM_011526122.1:c.5419A>C	XP_011524424.1:p.Ile1807Leu
XM_011526123.1:c.5446A>C	XP_011524425.1:p.Ile1816Leu
XM_011526124.1:c.5446A>C	XP_011524426.1:p.Ile1816Leu
XM_011526125.1:c.5305A>C	XP_011524427.1:p.Ile1769Leu
XM_011526126.1:c.4381A>C	XP_011524428.1:p.Ile1461Leu
XM_011526127.1:c.5446A>C	XP_011524429.1:p.Ile1816Leu
XM_011526128.1:c.*14A>C	XP_011524430.1:n.*14A>C
XM_017025889.1:c.5419A>C	XP_016881378.1:p.Ile1807Leu
XM_017025890.2:c.5419A>C	XP_016881379.1:p.Ile1807Leu
XM_017025891.1:c.5278A>C	XP_016881380.1:p.Ile1760Leu
XM_017025892.1:c.4354A>C	XP_016881381.1:p.Ile1452Leu
XM_017025893.1:c.2044A>C	XP_016881382.1:p.Ile682Leu
XR_001753256.1:n.5501A>C
XR_001753257.1:n.5445A>C
XR_935244.1:n.5519A>C