Canonical Allele Identifier: CA402340297

Gene: EPG5

Linked Data

• MyVariant Identifiers: chr18:g.43490691A>G (hg19) ; chr18:g.45910726A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45910726A>G , CM000680.2:g.45910726A>G	GRCh38
NC_000018.9:g.43490691A>G , CM000680.1:g.43490691A>G	GRCh37
NC_000018.8:g.41744689A>G	NCBI36
NG_042838.1:g.61614T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000586655.2:n.2184T>C
ENST00000587884.2:c.4000T>C	ENSP00000466990.2:p.Cys1334Arg
ENST00000590884.6:c.4000T>C	ENSP00000466403.2:p.Cys1334Arg
ENST00000592272.6:c.4000T>C	ENSP00000467464.2:p.Cys1334Arg
ENST00000696482.1:c.3740T>C	ENSP00000512656.1:n.3740T>C
ENST00000696483.1:c.4000T>C	ENSP00000512657.1:p.Cys1334Arg
ENST00000696484.1:c.4000T>C	ENSP00000512658.1:p.Cys1334Arg
ENST00000696485.1:c.4000T>C	ENSP00000512659.1:p.Cys1334Arg
ENST00000696489.1:c.4000T>C	ENSP00000512660.1:p.Cys1334Arg
ENST00000696490.1:c.4000T>C	ENSP00000512661.1:p.Cys1334Arg
ENST00000282041.11:c.4000T>C MANE Select	ENSP00000282041.4:p.Cys1334Arg
ENST00000282041.9:c.4000T>C	ENSP00000282041.4:p.Cys1334Arg
ENST00000585906.5:n.779T>C
ENST00000587884.1:c.625T>C	ENSP00000466990.1:p.Cys209Arg
ENST00000587974.1:n.4035T>C
ENST00000590884.5:c.625T>C	ENSP00000466403.1:p.Cys209Arg
ENST00000592272.5:c.625T>C	ENSP00000467464.1:p.Cys209Arg
NM_020964.2:c.4000T>C	NP_066015.2:p.Cys1334Arg
XM_011526120.1:c.4027T>C	XP_011524422.1:p.Cys1343Arg
XM_011526121.1:c.4027T>C	XP_011524423.1:p.Cys1343Arg
XM_011526122.1:c.4000T>C	XP_011524424.1:p.Cys1334Arg
XM_011526123.1:c.4027T>C	XP_011524425.1:p.Cys1343Arg
XM_011526124.1:c.4027T>C	XP_011524426.1:p.Cys1343Arg
XM_011526125.1:c.3886T>C	XP_011524427.1:p.Cys1296Arg
XM_011526126.1:c.2962T>C	XP_011524428.1:p.Cys988Arg
XM_011526127.1:c.4027T>C	XP_011524429.1:p.Cys1343Arg
XM_011526128.1:c.4027T>C	XP_011524430.1:p.Cys1343Arg
XR_935244.1:n.4100T>C
NM_020964.3:c.4000T>C MANE Select	NP_066015.2:p.Cys1334Arg
XM_017025889.1:c.4000T>C	XP_016881378.1:p.Cys1334Arg
XM_017025890.2:c.4000T>C	XP_016881379.1:p.Cys1334Arg
XM_017025891.1:c.3859T>C	XP_016881380.1:p.Cys1287Arg
XM_017025892.1:c.2935T>C	XP_016881381.1:p.Cys979Arg
XM_017025893.1:c.625T>C	XP_016881382.1:p.Cys209Arg
XR_001753256.1:n.4082T>C
XR_001753257.1:n.4082T>C