Canonical Allele Identifier: CA503793688

Gene: EPG5

Linked Data

• gnomAD v4: 18-45910583-T-G
• MyVariant Identifiers: chr18:g.43490548T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45910583T>G , CM000680.2:g.45910583T>G	GRCh38
NC_000018.9:g.43490548T>G , CM000680.1:g.43490548T>G	GRCh37
NC_000018.8:g.41744546T>G	NCBI36
NG_042838.1:g.61757A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000586655.2:n.2327A>C
ENST00000587884.2:c.4143A>C	ENSP00000466990.2:p.Pro1381=
ENST00000590884.6:c.4143A>C	ENSP00000466403.2:p.Pro1381=
ENST00000592272.6:c.4143A>C	ENSP00000467464.2:p.Pro1381=
ENST00000696482.1:c.3883A>C	ENSP00000512656.1:n.3883A>C
ENST00000696483.1:c.4143A>C	ENSP00000512657.1:p.Pro1381=
ENST00000696484.1:c.4143A>C	ENSP00000512658.1:p.Pro1381=
ENST00000696485.1:c.4143A>C	ENSP00000512659.1:p.Pro1381=
ENST00000696489.1:c.4143A>C	ENSP00000512660.1:p.Pro1381=
ENST00000696490.1:c.4143A>C	ENSP00000512661.1:p.Pro1381=
ENST00000282041.11:c.4143A>C MANE Select	ENSP00000282041.4:p.Pro1381=
ENST00000282041.9:c.4143A>C	ENSP00000282041.4:p.Pro1381=
ENST00000585906.5:n.922A>C
ENST00000587884.1:c.768A>C	ENSP00000466990.1:p.Pro256=
ENST00000587974.1:n.4178A>C
ENST00000590884.5:c.768A>C	ENSP00000466403.1:p.Pro256=
ENST00000592272.5:c.768A>C	ENSP00000467464.1:p.Pro256=
NM_020964.2:c.4143A>C	NP_066015.2:p.Pro1381=
XM_011526120.1:c.4170A>C	XP_011524422.1:p.Pro1390=
XM_011526121.1:c.4170A>C	XP_011524423.1:p.Pro1390=
XM_011526122.1:c.4143A>C	XP_011524424.1:p.Pro1381=
XM_011526123.1:c.4170A>C	XP_011524425.1:p.Pro1390=
XM_011526124.1:c.4170A>C	XP_011524426.1:p.Pro1390=
XM_011526125.1:c.4029A>C	XP_011524427.1:p.Pro1343=
XM_011526126.1:c.3105A>C	XP_011524428.1:p.Pro1035=
XM_011526127.1:c.4170A>C	XP_011524429.1:p.Pro1390=
XM_011526128.1:c.4170A>C	XP_011524430.1:p.Pro1390=
XR_935244.1:n.4243A>C
NM_020964.3:c.4143A>C MANE Select	NP_066015.2:p.Pro1381=
XM_017025889.1:c.4143A>C	XP_016881378.1:p.Pro1381=
XM_017025890.2:c.4143A>C	XP_016881379.1:p.Pro1381=
XM_017025891.1:c.4002A>C	XP_016881380.1:p.Pro1334=
XM_017025892.1:c.3078A>C	XP_016881381.1:p.Pro1026=
XM_017025893.1:c.768A>C	XP_016881382.1:p.Pro256=
XR_001753256.1:n.4225A>C
XR_001753257.1:n.4225A>C