Canonical Allele Identifier: CA2573155343

Gene: EPG5

Linked Data

• ClinVar Variation Id: 1610433
• ClinVar RCV Id: RCV002145267
• dbSNP Id: rs2145667569
• gnomAD v4: 18-45910754-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45910754C>G , CM000680.2:g.45910754C>G	GRCh38
NC_000018.9:g.43490719C>G , CM000680.1:g.43490719C>G	GRCh37
NC_000018.8:g.41744717C>G	NCBI36
NG_042838.1:g.61586G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000586655.2:n.2168-12G>C
ENST00000587884.2:c.3984-12G>C	ENSP00000466990.2:n.3984-12G>C
ENST00000590884.6:c.3984-12G>C	ENSP00000466403.2:n.3984-12G>C
ENST00000592272.6:c.3984-12G>C	ENSP00000467464.2:n.3984-12G>C
ENST00000696482.1:c.3724-12G>C	ENSP00000512656.1:n.3724-12G>C
ENST00000696483.1:c.3984-12G>C	ENSP00000512657.1:n.3984-12G>C
ENST00000696484.1:c.3984-12G>C	ENSP00000512658.1:n.3984-12G>C
ENST00000696485.1:c.3984-12G>C	ENSP00000512659.1:n.3984-12G>C
ENST00000696489.1:c.3984-12G>C	ENSP00000512660.1:n.3984-12G>C
ENST00000696490.1:c.3984-12G>C	ENSP00000512661.1:n.3984-12G>C
ENST00000282041.11:c.3984-12G>C MANE Select	ENSP00000282041.4:n.3984-12G>C
ENST00000282041.9:c.3984-12G>C	ENSP00000282041.4:n.3984-12G>C
ENST00000585906.5:n.763-12G>C
ENST00000587884.1:c.609-12G>C	ENSP00000466990.1:n.609-12G>C
ENST00000587974.1:n.4019-12G>C
ENST00000590884.5:c.609-12G>C	ENSP00000466403.1:n.609-12G>C
ENST00000592272.5:c.609-12G>C	ENSP00000467464.1:n.609-12G>C
NM_020964.2:c.3984-12G>C	NP_066015.2:n.3984-12G>C
XM_011526120.1:c.4011-12G>C	XP_011524422.1:n.4011-12G>C
XM_011526121.1:c.4011-12G>C	XP_011524423.1:n.4011-12G>C
XM_011526122.1:c.3984-12G>C	XP_011524424.1:n.3984-12G>C
XM_011526123.1:c.4011-12G>C	XP_011524425.1:n.4011-12G>C
XM_011526124.1:c.4011-12G>C	XP_011524426.1:n.4011-12G>C
XM_011526125.1:c.3870-12G>C	XP_011524427.1:n.3870-12G>C
XM_011526126.1:c.2946-12G>C	XP_011524428.1:n.2946-12G>C
XM_011526127.1:c.4011-12G>C	XP_011524429.1:n.4011-12G>C
XM_011526128.1:c.4011-12G>C	XP_011524430.1:n.4011-12G>C
XR_935244.1:n.4084-12G>C
NM_020964.3:c.3984-12G>C MANE Select	NP_066015.2:n.3984-12G>C
XM_017025889.1:c.3984-12G>C	XP_016881378.1:n.3984-12G>C
XM_017025890.2:c.3984-12G>C	XP_016881379.1:n.3984-12G>C
XM_017025891.1:c.3843-12G>C	XP_016881380.1:n.3843-12G>C
XM_017025892.1:c.2919-12G>C	XP_016881381.1:n.2919-12G>C
XM_017025893.1:c.609-12G>C	XP_016881382.1:n.609-12G>C
XR_001753256.1:n.4066-12G>C
XR_001753257.1:n.4066-12G>C