Canonical Allele Identifier: CA394808563
Community Standard Title: NM_002582.4(PARN):c.657G>A (p.Trp219Ter)
Gene: PARN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.14608283C>T , CM000678.2:g.14608283C>T GRCh38
NC_000016.9:g.14702140C>T , CM000678.1:g.14702140C>T GRCh37
NC_000016.8:g.14609641C>T NCBI36
NG_042871.1:g.26989G>A

Transcript Alleles

HGVS Amino-acid Change
NM_002582.4:c.657G>A MANE Select NP_002573.1:p.Trp219Ter
ENST00000437198.7:c.657G>A MANE Select ENSP00000387911.2:p.Trp219Ter
NM_001134477.2:c.474G>A NP_001127949.1:p.Trp158Ter
NM_001134477.3:c.474G>A NP_001127949.1:p.Trp158Ter
NM_001242992.1:c.519G>A NP_001229921.1:p.Trp173Ter
NM_001242992.2:c.519G>A NP_001229921.1:p.Trp173Ter
NM_002582.3:c.657G>A NP_002573.1:p.Trp219Ter
ENST00000341484.11:c.474G>A ENSP00000345456.7:p.Trp158Ter
ENST00000420015.6:c.519G>A ENSP00000410525.2:p.Trp173Ter
ENST00000437198.6:c.657G>A ENSP00000387911.2:p.Trp219Ter
ENST00000538472.5:c.606G>A ENSP00000445659.1:p.Trp202Ter
ENST00000539279.5:c.178-4057G>A ENSP00000444381.1:n.178-4057G>A
ENST00000563155.1:n.159G>A
ENST00000563641.5:c.*391G>A ENSP00000458103.1:n.*391G>A
ENST00000563641.6:c.*421G>A ENSP00000458103.1:n.*421G>A
ENST00000564113.6:n.767G>A
ENST00000569444.5:c.203G>A
ENST00000650960.1:c.657G>A ENSP00000499110.1:p.Trp219Ter
ENST00000650990.1:c.657G>A ENSP00000498741.1:p.Trp219Ter
ENST00000651027.1:c.657G>A ENSP00000498640.1:p.Trp219Ter
ENST00000651049.1:c.657G>A ENSP00000498644.1:p.Trp219Ter
ENST00000651241.1:n.1683G>A
ENST00000651300.1:c.*551G>A ENSP00000498294.1:n.*551G>A
ENST00000651348.1:c.657G>A ENSP00000498315.1:p.Trp219Ter
ENST00000651634.1:c.657G>A ENSP00000499078.1:p.Trp219Ter
ENST00000651760.1:c.457G>A
ENST00000651865.1:c.507G>A ENSP00000498567.1:p.Trp169Ter
ENST00000651913.1:c.607G>A
ENST00000652051.1:c.657G>A ENSP00000498898.1:p.Trp219Ter
ENST00000652066.1:c.362G>A
ENST00000652411.1:n.814G>A
ENST00000652501.1:c.657G>A ENSP00000498261.1:p.Trp219Ter
ENST00000652541.1:c.*391G>A ENSP00000499206.1:n.*391G>A
ENST00000652727.1:c.657G>A ENSP00000498650.1:p.Trp219Ter
ENST00000697471.1:n.1108G>A
ENST00000697472.1:n.701-1757G>A
ENST00000697473.1:n.2302G>A
ENST00000697474.1:c.657G>A ENSP00000513329.1:p.Trp219Ter
ENST00000697475.1:n.812G>A
ENST00000697476.1:n.790G>A
ENST00000697477.1:n.792G>A
XM_011522510.1:c.657G>A XP_011520812.1:p.Trp219Ter
XM_011522510.3:c.657G>A XP_011520812.1:p.Trp219Ter
XM_011522511.1:c.657G>A XP_011520813.1:p.Trp219Ter
XM_011522511.2:c.657G>A XP_011520813.1:p.Trp219Ter
XM_011522512.1:c.657G>A XP_011520814.1:p.Trp219Ter
XM_011522513.1:c.474G>A XP_011520815.1:p.Trp158Ter
XM_011522513.2:c.474G>A XP_011520815.1:p.Trp158Ter
XM_011522514.1:c.657G>A XP_011520816.1:p.Trp219Ter
XM_011522514.2:c.657G>A XP_011520816.1:p.Trp219Ter
XM_017023258.2:c.657G>A XP_016878747.1:p.Trp219Ter
XM_017023259.2:c.-137G>A XP_016878748.1:n.-137G>A
XM_017023260.1:c.-137G>A XP_016878749.1:n.-137G>A
XM_024450292.1:c.-137G>A XP_024306060.1:n.-137G>A
XR_001751906.2:n.818G>A
XR_001751907.2:n.818G>A