Canonical Allele Identifier: CA8948107

Gene: EPG5

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45860089A>G , CM000680.2:g.45860089A>G	GRCh38
NC_000018.9:g.43440054A>G , CM000680.1:g.43440054A>G	GRCh37
NC_000018.8:g.41694052A>G	NCBI36
NG_042838.1:g.112251T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000586655.2:n.5270+15T>C
ENST00000587884.2:c.7135+15T>C	ENSP00000466990.2:n.7135+15T>C
ENST00000587973.2:n.2874+15T>C
ENST00000590884.6:c.6670+15T>C	ENSP00000466403.2:n.6670+15T>C
ENST00000592272.6:c.6902+15T>C	ENSP00000467464.2:n.6902+15T>C
ENST00000696481.1:n.3641+15T>C
ENST00000696482.1:c.6749+15T>C	ENSP00000512656.1:n.6749+15T>C
ENST00000696483.1:c.7009+15T>C	ENSP00000512657.1:n.7009+15T>C
ENST00000696484.1:c.7009+15T>C	ENSP00000512658.1:n.7009+15T>C
ENST00000696485.1:c.*1601+15T>C	ENSP00000512659.1:n.*1601+15T>C
ENST00000696489.1:c.7006+15T>C	ENSP00000512660.1:n.7006+15T>C
ENST00000696490.1:c.7009+15T>C	ENSP00000512661.1:n.7009+15T>C
ENST00000282041.11:c.7009+15T>C MANE Select	ENSP00000282041.4:n.7009+15T>C
ENST00000282041.9:c.7009+15T>C	ENSP00000282041.4:n.7009+15T>C
ENST00000585906.5:n.3788+15T>C
ENST00000587884.1:c.*2749+15T>C	ENSP00000466990.1:n.*2749+15T>C
ENST00000590854.5:c.786+15T>C
ENST00000590884.5:c.*1321+15T>C	ENSP00000466403.1:n.*1321+15T>C
ENST00000592272.5:c.*956+15T>C	ENSP00000467464.1:n.*956+15T>C
NM_020964.2:c.7009+15T>C	NP_066015.2:n.7009+15T>C
XM_011526120.1:c.7036+15T>C	XP_011524422.1:n.7036+15T>C
XM_011526121.1:c.7033+15T>C	XP_011524423.1:n.7033+15T>C
XM_011526122.1:c.7009+15T>C	XP_011524424.1:n.7009+15T>C
XM_011526123.1:c.7036+15T>C	XP_011524425.1:n.7036+15T>C
XM_011526124.1:c.7036+15T>C	XP_011524426.1:n.7036+15T>C
XM_011526125.1:c.6895+15T>C	XP_011524427.1:n.6895+15T>C
XM_011526126.1:c.5971+15T>C	XP_011524428.1:n.5971+15T>C
XR_935244.1:n.7002+15T>C
NM_020964.3:c.7009+15T>C MANE Select	NP_066015.2:n.7009+15T>C
XM_017025889.1:c.7006+15T>C	XP_016881378.1:n.7006+15T>C
XM_017025890.2:c.7009+15T>C	XP_016881379.1:n.7009+15T>C
XM_017025891.1:c.6868+15T>C	XP_016881380.1:n.6868+15T>C
XM_017025892.1:c.5944+15T>C	XP_016881381.1:n.5944+15T>C
XM_017025893.1:c.3634+15T>C	XP_016881382.1:n.3634+15T>C
XR_001753256.1:n.6984+15T>C
XR_001753257.1:n.7032+15T>C