Canonical Allele Identifier: CA2576493946

Gene: EPG5

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45867548G>A , CM000680.2:g.45867548G>A	GRCh38
NC_000018.9:g.43447513G>A , CM000680.1:g.43447513G>A	GRCh37
NC_000018.8:g.41701511G>A	NCBI36
NG_042838.1:g.104792C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020964.3:c.6411+15C>T MANE Select	NP_066015.2:n.6411+15C>T
ENST00000282041.11:c.6411+15C>T MANE Select	ENSP00000282041.4:n.6411+15C>T
NM_020964.2:c.6411+15C>T	NP_066015.2:n.6411+15C>T
ENST00000282041.9:c.6411+15C>T	ENSP00000282041.4:n.6411+15C>T
ENST00000585906.5:n.3190+15C>T
ENST00000586655.2:n.4672+15C>T
ENST00000587884.1:c.*2151+15C>T	ENSP00000466990.1:n.*2151+15C>T
ENST00000587884.2:c.6537+15C>T	ENSP00000466990.2:n.6537+15C>T
ENST00000587973.2:n.2276+15C>T
ENST00000590854.5:c.188+15C>T
ENST00000590884.5:c.*723+15C>T	ENSP00000466403.1:n.*723+15C>T
ENST00000590884.6:c.6072+15C>T	ENSP00000466403.2:n.6072+15C>T
ENST00000592272.5:c.*358+15C>T	ENSP00000467464.1:n.*358+15C>T
ENST00000592272.6:c.6304+15C>T	ENSP00000467464.2:n.6304+15C>T
ENST00000696481.1:n.3043+15C>T
ENST00000696482.1:c.6151+15C>T	ENSP00000512656.1:n.6151+15C>T
ENST00000696483.1:c.6411+15C>T	ENSP00000512657.1:n.6411+15C>T
ENST00000696484.1:c.6411+15C>T	ENSP00000512658.1:n.6411+15C>T
ENST00000696485.1:c.*1003+15C>T	ENSP00000512659.1:n.*1003+15C>T
ENST00000696489.1:c.6408+15C>T	ENSP00000512660.1:n.6408+15C>T
ENST00000696490.1:c.6411+15C>T	ENSP00000512661.1:n.6411+15C>T
XM_011526120.1:c.6438+15C>T	XP_011524422.1:n.6438+15C>T
XM_011526121.1:c.6435+15C>T	XP_011524423.1:n.6435+15C>T
XM_011526122.1:c.6411+15C>T	XP_011524424.1:n.6411+15C>T
XM_011526123.1:c.6438+15C>T	XP_011524425.1:n.6438+15C>T
XM_011526124.1:c.6438+15C>T	XP_011524426.1:n.6438+15C>T
XM_011526125.1:c.6297+15C>T	XP_011524427.1:n.6297+15C>T
XM_011526126.1:c.5373+15C>T	XP_011524428.1:n.5373+15C>T
XM_017025889.1:c.6408+15C>T	XP_016881378.1:n.6408+15C>T
XM_017025890.2:c.6411+15C>T	XP_016881379.1:n.6411+15C>T
XM_017025891.1:c.6270+15C>T	XP_016881380.1:n.6270+15C>T
XM_017025892.1:c.5346+15C>T	XP_016881381.1:n.5346+15C>T
XM_017025893.1:c.3036+15C>T	XP_016881382.1:n.3036+15C>T
XR_001753256.1:n.6386+15C>T
XR_001753257.1:n.6434+15C>T
XR_935244.1:n.6404+15C>T