Canonical Allele Identifier: CA8948591

Gene: EPG5

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45882372A>G , CM000680.2:g.45882372A>G	GRCh38
NC_000018.9:g.43462337A>G , CM000680.1:g.43462337A>G	GRCh37
NC_000018.8:g.41716335A>G	NCBI36
NG_042838.1:g.89968T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_020964.3:c.5420T>C MANE Select	NP_066015.2:p.Ile1807Thr
ENST00000282041.11:c.5420T>C MANE Select	ENSP00000282041.4:p.Ile1807Thr
NM_020964.2:c.5420T>C	NP_066015.2:p.Ile1807Thr
ENST00000282041.9:c.5420T>C	ENSP00000282041.4:p.Ile1807Thr
ENST00000585906.5:n.2199T>C
ENST00000586655.2:n.3681T>C
ENST00000587884.1:c.*1160T>C	ENSP00000466990.1:n.*1160T>C
ENST00000587884.2:c.5546T>C	ENSP00000466990.2:n.5546T>C
ENST00000587973.2:n.1285T>C
ENST00000590884.5:c.*15T>C	ENSP00000466403.1:n.*15T>C
ENST00000590884.6:c.5364T>C	ENSP00000466403.2:n.5364T>C
ENST00000592272.5:c.2045T>C	ENSP00000467464.1:p.Ile682Thr
ENST00000592272.6:c.5420T>C	ENSP00000467464.2:p.Ile1807Thr
ENST00000696481.1:n.2052T>C
ENST00000696482.1:c.5160T>C	ENSP00000512656.1:n.5160T>C
ENST00000696483.1:c.5420T>C	ENSP00000512657.1:p.Ile1807Thr
ENST00000696484.1:c.5420T>C	ENSP00000512658.1:p.Ile1807Thr
ENST00000696485.1:c.*15T>C	ENSP00000512659.1:n.*15T>C
ENST00000696489.1:c.5420T>C	ENSP00000512660.1:p.Ile1807Thr
ENST00000696490.1:c.5420T>C	ENSP00000512661.1:p.Ile1807Thr
XM_011526120.1:c.5447T>C	XP_011524422.1:p.Ile1816Thr
XM_011526121.1:c.5447T>C	XP_011524423.1:p.Ile1816Thr
XM_011526122.1:c.5420T>C	XP_011524424.1:p.Ile1807Thr
XM_011526123.1:c.5447T>C	XP_011524425.1:p.Ile1816Thr
XM_011526124.1:c.5447T>C	XP_011524426.1:p.Ile1816Thr
XM_011526125.1:c.5306T>C	XP_011524427.1:p.Ile1769Thr
XM_011526126.1:c.4382T>C	XP_011524428.1:p.Ile1461Thr
XM_011526127.1:c.5447T>C	XP_011524429.1:p.Ile1816Thr
XM_011526128.1:c.*15T>C	XP_011524430.1:n.*15T>C
XM_017025889.1:c.5420T>C	XP_016881378.1:p.Ile1807Thr
XM_017025890.2:c.5420T>C	XP_016881379.1:p.Ile1807Thr
XM_017025891.1:c.5279T>C	XP_016881380.1:p.Ile1760Thr
XM_017025892.1:c.4355T>C	XP_016881381.1:p.Ile1452Thr
XM_017025893.1:c.2045T>C	XP_016881382.1:p.Ile682Thr
XR_001753256.1:n.5502T>C
XR_001753257.1:n.5446T>C
XR_935244.1:n.5520T>C