Canonical Allele Identifier: CA394813087
Community Standard Title: NM_002582.4(PARN):c.382C>T (p.Arg128Ter)
Gene: PARN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.14617596G>A , CM000678.2:g.14617596G>A GRCh38
NC_000016.9:g.14711453G>A , CM000678.1:g.14711453G>A GRCh37
NC_000016.8:g.14618954G>A NCBI36
NG_042871.1:g.17676C>T

Transcript Alleles

HGVS Amino-acid Change
NM_002582.4:c.382C>T MANE Select NP_002573.1:p.Arg128Ter
ENST00000437198.7:c.382C>T MANE Select ENSP00000387911.2:p.Arg128Ter
NM_001134477.2:c.199C>T NP_001127949.1:p.Arg67Ter
NM_001134477.3:c.199C>T NP_001127949.1:p.Arg67Ter
NM_001242992.1:c.244C>T NP_001229921.1:p.Arg82Ter
NM_001242992.2:c.244C>T NP_001229921.1:p.Arg82Ter
NM_002582.3:c.382C>T NP_002573.1:p.Arg128Ter
ENST00000341484.11:c.199C>T ENSP00000345456.7:p.Arg67Ter
ENST00000420015.6:c.244C>T ENSP00000410525.2:p.Arg82Ter
ENST00000437198.6:c.382C>T ENSP00000387911.2:p.Arg128Ter
ENST00000538472.5:c.331C>T ENSP00000445659.1:p.Arg111Ter
ENST00000539279.5:c.177+10576C>T ENSP00000444381.1:n.177+10576C>T
ENST00000563641.5:c.*116C>T ENSP00000458103.1:n.*116C>T
ENST00000563641.6:c.*146C>T ENSP00000458103.1:n.*146C>T
ENST00000564113.6:n.492C>T
ENST00000566021.1:n.454-6787C>T
ENST00000650960.1:c.382C>T ENSP00000499110.1:p.Arg128Ter
ENST00000650990.1:c.382C>T ENSP00000498741.1:p.Arg128Ter
ENST00000651027.1:c.382C>T ENSP00000498640.1:p.Arg128Ter
ENST00000651049.1:c.382C>T ENSP00000498644.1:p.Arg128Ter
ENST00000651241.1:n.1408C>T
ENST00000651300.1:c.*276C>T ENSP00000498294.1:n.*276C>T
ENST00000651348.1:c.382C>T ENSP00000498315.1:p.Arg128Ter
ENST00000651634.1:c.382C>T ENSP00000499078.1:p.Arg128Ter
ENST00000651760.1:c.182C>T
ENST00000651865.1:c.232C>T ENSP00000498567.1:p.Arg78Ter
ENST00000651913.1:c.332C>T
ENST00000652051.1:c.382C>T ENSP00000498898.1:p.Arg128Ter
ENST00000652066.1:c.87C>T
ENST00000652411.1:n.539C>T
ENST00000652501.1:c.382C>T ENSP00000498261.1:p.Arg128Ter
ENST00000652541.1:c.*116C>T ENSP00000499206.1:n.*116C>T
ENST00000652727.1:c.382C>T ENSP00000498650.1:p.Arg128Ter
ENST00000697472.1:n.528C>T
ENST00000697473.1:n.507C>T
ENST00000697474.1:c.382C>T ENSP00000513329.1:p.Arg128Ter
ENST00000697475.1:n.537C>T
ENST00000697476.1:n.515C>T
ENST00000697477.1:n.517C>T
XM_011522510.1:c.382C>T XP_011520812.1:p.Arg128Ter
XM_011522510.3:c.382C>T XP_011520812.1:p.Arg128Ter
XM_011522511.1:c.382C>T XP_011520813.1:p.Arg128Ter
XM_011522511.2:c.382C>T XP_011520813.1:p.Arg128Ter
XM_011522512.1:c.382C>T XP_011520814.1:p.Arg128Ter
XM_011522513.1:c.199C>T XP_011520815.1:p.Arg67Ter
XM_011522513.2:c.199C>T XP_011520815.1:p.Arg67Ter
XM_011522514.1:c.382C>T XP_011520816.1:p.Arg128Ter
XM_011522514.2:c.382C>T XP_011520816.1:p.Arg128Ter
XM_017023258.2:c.382C>T XP_016878747.1:p.Arg128Ter
XM_017023259.2:c.-412C>T XP_016878748.1:n.-412C>T
XM_017023260.1:c.-405-6787C>T XP_016878749.1:n.-405-6787C>T
XM_024450292.1:c.-1150C>T XP_024306060.1:n.-1150C>T
XR_001751906.2:n.543C>T
XR_001751907.2:n.543C>T