Canonical Allele Identifier: CA299714099
Community Standard Title: NM_020964.3(EPG5):c.5472C>T (p.Tyr1824=)
Gene: EPG5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.45882320G>A , CM000680.2:g.45882320G>A GRCh38
NC_000018.9:g.43462285G>A , CM000680.1:g.43462285G>A GRCh37
NC_000018.8:g.41716283G>A NCBI36
NG_042838.1:g.90020C>T

Transcript Alleles

HGVS Amino-acid Change
NM_020964.3:c.5472C>T MANE Select NP_066015.2:p.Tyr1824=
ENST00000282041.11:c.5472C>T MANE Select ENSP00000282041.4:p.Tyr1824=
NM_020964.2:c.5472C>T NP_066015.2:p.Tyr1824=
ENST00000282041.9:c.5472C>T ENSP00000282041.4:p.Tyr1824=
ENST00000585906.5:n.2251C>T
ENST00000586655.2:n.3733C>T
ENST00000587884.1:c.*1212C>T ENSP00000466990.1:n.*1212C>T
ENST00000587884.2:c.5598C>T ENSP00000466990.2:n.5598C>T
ENST00000587973.2:n.1337C>T
ENST00000590884.5:c.*67C>T ENSP00000466403.1:n.*67C>T
ENST00000590884.6:c.5416C>T ENSP00000466403.2:n.5416C>T
ENST00000592272.5:c.2097C>T ENSP00000467464.1:p.Tyr699=
ENST00000592272.6:c.5472C>T ENSP00000467464.2:p.Tyr1824=
ENST00000696481.1:n.2104C>T
ENST00000696482.1:c.5212C>T ENSP00000512656.1:n.5212C>T
ENST00000696483.1:c.5472C>T ENSP00000512657.1:p.Tyr1824=
ENST00000696484.1:c.5472C>T ENSP00000512658.1:p.Tyr1824=
ENST00000696485.1:c.*67C>T ENSP00000512659.1:n.*67C>T
ENST00000696489.1:c.5472C>T ENSP00000512660.1:p.Tyr1824=
ENST00000696490.1:c.5472C>T ENSP00000512661.1:p.Tyr1824=
XM_011526120.1:c.5499C>T XP_011524422.1:p.Tyr1833=
XM_011526121.1:c.5499C>T XP_011524423.1:p.Tyr1833=
XM_011526122.1:c.5472C>T XP_011524424.1:p.Tyr1824=
XM_011526123.1:c.5499C>T XP_011524425.1:p.Tyr1833=
XM_011526124.1:c.5499C>T XP_011524426.1:p.Tyr1833=
XM_011526125.1:c.5358C>T XP_011524427.1:p.Tyr1786=
XM_011526126.1:c.4434C>T XP_011524428.1:p.Tyr1478=
XM_011526127.1:c.5499C>T XP_011524429.1:p.Tyr1833=
XM_011526128.1:c.*67C>T XP_011524430.1:n.*67C>T
XM_017025889.1:c.5472C>T XP_016881378.1:p.Tyr1824=
XM_017025890.2:c.5472C>T XP_016881379.1:p.Tyr1824=
XM_017025891.1:c.5331C>T XP_016881380.1:p.Tyr1777=
XM_017025892.1:c.4407C>T XP_016881381.1:p.Tyr1469=
XM_017025893.1:c.2097C>T XP_016881382.1:p.Tyr699=
XR_001753256.1:n.5554C>T
XR_001753257.1:n.5498C>T
XR_935244.1:n.5572C>T