Canonical Allele Identifier: CA402339758

Gene: EPG5

Linked Data

• dbSNP Id: rs200759465
• gnomAD v4: 18-45910536-T-G
• MyVariant Identifiers: chr18:g.43490501T>G (hg19) ; chr18:g.45910536T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45910536T>G , CM000680.2:g.45910536T>G	GRCh38
NC_000018.9:g.43490501T>G , CM000680.1:g.43490501T>G	GRCh37
NC_000018.8:g.41744499T>G	NCBI36
NG_042838.1:g.61804A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000586655.2:n.2374A>C
ENST00000587884.2:c.4190A>C	ENSP00000466990.2:p.His1397Pro
ENST00000590884.6:c.4190A>C	ENSP00000466403.2:p.His1397Pro
ENST00000592272.6:c.4190A>C	ENSP00000467464.2:p.His1397Pro
ENST00000696482.1:c.3930A>C	ENSP00000512656.1:n.3930A>C
ENST00000696483.1:c.4190A>C	ENSP00000512657.1:p.His1397Pro
ENST00000696484.1:c.4190A>C	ENSP00000512658.1:p.His1397Pro
ENST00000696485.1:c.4190A>C	ENSP00000512659.1:p.His1397Pro
ENST00000696489.1:c.4190A>C	ENSP00000512660.1:p.His1397Pro
ENST00000696490.1:c.4190A>C	ENSP00000512661.1:p.His1397Pro
ENST00000282041.11:c.4190A>C MANE Select	ENSP00000282041.4:p.His1397Pro
ENST00000282041.9:c.4190A>C	ENSP00000282041.4:p.His1397Pro
ENST00000585906.5:n.969A>C
ENST00000587884.1:c.815A>C	ENSP00000466990.1:p.His272Pro
ENST00000587974.1:n.4225A>C
ENST00000590884.5:c.815A>C	ENSP00000466403.1:p.His272Pro
ENST00000592272.5:c.815A>C	ENSP00000467464.1:p.His272Pro
NM_020964.2:c.4190A>C	NP_066015.2:p.His1397Pro
XM_011526120.1:c.4217A>C	XP_011524422.1:p.His1406Pro
XM_011526121.1:c.4217A>C	XP_011524423.1:p.His1406Pro
XM_011526122.1:c.4190A>C	XP_011524424.1:p.His1397Pro
XM_011526123.1:c.4217A>C	XP_011524425.1:p.His1406Pro
XM_011526124.1:c.4217A>C	XP_011524426.1:p.His1406Pro
XM_011526125.1:c.4076A>C	XP_011524427.1:p.His1359Pro
XM_011526126.1:c.3152A>C	XP_011524428.1:p.His1051Pro
XM_011526127.1:c.4217A>C	XP_011524429.1:p.His1406Pro
XM_011526128.1:c.4217A>C	XP_011524430.1:p.His1406Pro
XR_935244.1:n.4290A>C
NM_020964.3:c.4190A>C MANE Select	NP_066015.2:p.His1397Pro
XM_017025889.1:c.4190A>C	XP_016881378.1:p.His1397Pro
XM_017025890.2:c.4190A>C	XP_016881379.1:p.His1397Pro
XM_017025891.1:c.4049A>C	XP_016881380.1:p.His1350Pro
XM_017025892.1:c.3125A>C	XP_016881381.1:p.His1042Pro
XM_017025893.1:c.815A>C	XP_016881382.1:p.His272Pro
XR_001753256.1:n.4272A>C
XR_001753257.1:n.4272A>C