Canonical Allele Identifier: CA402336263

Gene: EPG5

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45858575A>C , CM000680.2:g.45858575A>C	GRCh38
NC_000018.9:g.43438540A>C , CM000680.1:g.43438540A>C	GRCh37
NC_000018.8:g.41692538A>C	NCBI36
NG_042838.1:g.113765T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_020964.3:c.7217T>G MANE Select	NP_066015.2:p.Val2406Gly
ENST00000282041.11:c.7217T>G MANE Select	ENSP00000282041.4:p.Val2406Gly
NM_020964.2:c.7217T>G	NP_066015.2:p.Val2406Gly
ENST00000282041.9:c.7217T>G	ENSP00000282041.4:p.Val2406Gly
ENST00000585906.5:n.3996T>G
ENST00000586655.2:n.5478T>G
ENST00000587262.1:n.77T>G
ENST00000587884.1:c.*2957T>G	ENSP00000466990.1:n.*2957T>G
ENST00000587884.2:c.7343T>G	ENSP00000466990.2:n.7343T>G
ENST00000587973.2:n.3082T>G
ENST00000590854.5:c.994T>G
ENST00000590884.5:c.*1529T>G	ENSP00000466403.1:n.*1529T>G
ENST00000590884.6:c.6878T>G	ENSP00000466403.2:n.6878T>G
ENST00000592272.5:c.*1164T>G	ENSP00000467464.1:n.*1164T>G
ENST00000592272.6:c.7110T>G	ENSP00000467464.2:n.7110T>G
ENST00000696481.1:n.3849T>G
ENST00000696482.1:c.6957T>G	ENSP00000512656.1:n.6957T>G
ENST00000696483.1:c.7217T>G	ENSP00000512657.1:p.Val2406Gly
ENST00000696484.1:c.7217T>G	ENSP00000512658.1:p.Val2406Gly
ENST00000696485.1:c.*1809T>G	ENSP00000512659.1:n.*1809T>G
ENST00000696489.1:c.7214T>G	ENSP00000512660.1:p.Val2405Gly
ENST00000696490.1:c.7217T>G	ENSP00000512661.1:p.Val2406Gly
XM_011526120.1:c.7244T>G	XP_011524422.1:p.Val2415Gly
XM_011526121.1:c.7241T>G	XP_011524423.1:p.Val2414Gly
XM_011526122.1:c.7217T>G	XP_011524424.1:p.Val2406Gly
XM_011526123.1:c.7244T>G	XP_011524425.1:p.Val2415Gly
XM_011526124.1:c.7244T>G	XP_011524426.1:p.Val2415Gly
XM_011526125.1:c.7103T>G	XP_011524427.1:p.Val2368Gly
XM_011526126.1:c.6179T>G	XP_011524428.1:p.Val2060Gly
XM_017025889.1:c.7214T>G	XP_016881378.1:p.Val2405Gly
XM_017025890.2:c.7217T>G	XP_016881379.1:p.Val2406Gly
XM_017025891.1:c.7076T>G	XP_016881380.1:p.Val2359Gly
XM_017025892.1:c.6152T>G	XP_016881381.1:p.Val2051Gly
XM_017025893.1:c.3842T>G	XP_016881382.1:p.Val1281Gly
XR_001753256.1:n.7192T>G
XR_001753257.1:n.7240T>G
XR_935244.1:n.7210T>G