Canonical Allele Identifier: CA8947929

Gene: EPG5

Linked Data

• ClinVar Variation Id: 1189712
• ClinVar RCV Id: RCV001550170 ; RCV002032579
• dbSNP Id: rs763628666
• ExAC: 18:43432436 C / T
• gnomAD v2: 18-43432436-C-T
• gnomAD v4: 18-45852471-C-T
• MyVariant Identifiers: chr18:g.43432436C>T (hg19) ; chr18:g.45852471C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45852471C>T , CM000680.2:g.45852471C>T	GRCh38
NC_000018.9:g.43432436C>T , CM000680.1:g.43432436C>T	GRCh37
NC_000018.8:g.41686434C>T	NCBI36
NG_042838.1:g.119869G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000586655.2:n.5997G>A
ENST00000587884.2:c.7862G>A	ENSP00000466990.2:n.7862G>A
ENST00000587973.2:n.3601G>A
ENST00000590884.6:c.7397G>A	ENSP00000466403.2:n.7397G>A
ENST00000592272.6:c.7629G>A	ENSP00000467464.2:n.7629G>A
ENST00000696481.1:n.4074+5382G>A
ENST00000696482.1:c.7361G>A	ENSP00000512656.1:n.7361G>A
ENST00000696483.1:c.7557+3102G>A	ENSP00000512657.1:n.7557+3102G>A
ENST00000696484.1:c.7442+5382G>A	ENSP00000512658.1:n.7442+5382G>A
ENST00000696485.1:c.*2328G>A	ENSP00000512659.1:n.*2328G>A
ENST00000696489.1:c.7733G>A	ENSP00000512660.1:p.Arg2578Gln
ENST00000696490.1:c.*172G>A	ENSP00000512661.1:n.*172G>A
ENST00000282041.11:c.7736G>A MANE Select	ENSP00000282041.4:p.Arg2579Gln
ENST00000282041.9:c.7736G>A	ENSP00000282041.4:p.Arg2579Gln
ENST00000590854.5:c.1513G>A
NM_020964.2:c.7736G>A	NP_066015.2:p.Arg2579Gln
XM_011526123.1:c.7763G>A	XP_011524425.1:p.Arg2588Gln
XM_011526124.1:c.7584+3102G>A	XP_011524426.1:n.7584+3102G>A
NM_020964.3:c.7736G>A MANE Select	NP_066015.2:p.Arg2579Gln
XM_017025890.2:c.7557+3102G>A	XP_016881379.1:n.7557+3102G>A
XR_001753256.1:n.7711G>A
XR_001753257.1:n.7759G>A