Canonical Allele Identifier: CA7912414
Community Standard Title: NM_002582.4(PARN):c.448C>T (p.Arg150Cys)
Gene: PARN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.14610750G>A , CM000678.2:g.14610750G>A GRCh38
NC_000016.9:g.14704607G>A , CM000678.1:g.14704607G>A GRCh37
NC_000016.8:g.14612108G>A NCBI36
NG_042871.1:g.24522C>T

Transcript Alleles

HGVS Amino-acid Change
NM_002582.4:c.448C>T MANE Select NP_002573.1:p.Arg150Cys
ENST00000437198.7:c.448C>T MANE Select ENSP00000387911.2:p.Arg150Cys
NM_001134477.2:c.265C>T NP_001127949.1:p.Arg89Cys
NM_001134477.3:c.265C>T NP_001127949.1:p.Arg89Cys
NM_001242992.1:c.310C>T NP_001229921.1:p.Arg104Cys
NM_001242992.2:c.310C>T NP_001229921.1:p.Arg104Cys
NM_002582.3:c.448C>T NP_002573.1:p.Arg150Cys
ENST00000341484.11:c.265C>T ENSP00000345456.7:p.Arg89Cys
ENST00000420015.6:c.310C>T ENSP00000410525.2:p.Arg104Cys
ENST00000437198.6:c.448C>T ENSP00000387911.2:p.Arg150Cys
ENST00000538472.5:c.397C>T ENSP00000445659.1:p.Arg133Cys
ENST00000539279.5:c.178-6524C>T ENSP00000444381.1:n.178-6524C>T
ENST00000563641.5:c.*182C>T ENSP00000458103.1:n.*182C>T
ENST00000563641.6:c.*212C>T ENSP00000458103.1:n.*212C>T
ENST00000564113.6:n.558C>T
ENST00000566021.1:n.513C>T
ENST00000650960.1:c.448C>T ENSP00000499110.1:p.Arg150Cys
ENST00000650990.1:c.448C>T ENSP00000498741.1:p.Arg150Cys
ENST00000651027.1:c.448C>T ENSP00000498640.1:p.Arg150Cys
ENST00000651049.1:c.448C>T ENSP00000498644.1:p.Arg150Cys
ENST00000651241.1:n.1474C>T
ENST00000651300.1:c.*342C>T ENSP00000498294.1:n.*342C>T
ENST00000651348.1:c.448C>T ENSP00000498315.1:p.Arg150Cys
ENST00000651634.1:c.448C>T ENSP00000499078.1:p.Arg150Cys
ENST00000651760.1:c.248C>T
ENST00000651865.1:c.298C>T ENSP00000498567.1:p.Arg100Cys
ENST00000651913.1:c.398C>T
ENST00000652051.1:c.448C>T ENSP00000498898.1:p.Arg150Cys
ENST00000652066.1:c.153C>T
ENST00000652411.1:n.605C>T
ENST00000652501.1:c.448C>T ENSP00000498261.1:p.Arg150Cys
ENST00000652541.1:c.*182C>T ENSP00000499206.1:n.*182C>T
ENST00000652727.1:c.448C>T ENSP00000498650.1:p.Arg150Cys
ENST00000697471.1:n.899C>T
ENST00000697472.1:n.594C>T
ENST00000697473.1:n.573C>T
ENST00000697474.1:c.448C>T ENSP00000513329.1:p.Arg150Cys
ENST00000697475.1:n.603C>T
ENST00000697476.1:n.581C>T
ENST00000697477.1:n.583C>T
XM_011522510.1:c.448C>T XP_011520812.1:p.Arg150Cys
XM_011522510.3:c.448C>T XP_011520812.1:p.Arg150Cys
XM_011522511.1:c.448C>T XP_011520813.1:p.Arg150Cys
XM_011522511.2:c.448C>T XP_011520813.1:p.Arg150Cys
XM_011522512.1:c.448C>T XP_011520814.1:p.Arg150Cys
XM_011522513.1:c.265C>T XP_011520815.1:p.Arg89Cys
XM_011522513.2:c.265C>T XP_011520815.1:p.Arg89Cys
XM_011522514.1:c.448C>T XP_011520816.1:p.Arg150Cys
XM_011522514.2:c.448C>T XP_011520816.1:p.Arg150Cys
XM_017023258.2:c.448C>T XP_016878747.1:p.Arg150Cys
XM_017023259.2:c.-346C>T XP_016878748.1:n.-346C>T
XM_017023260.1:c.-346C>T XP_016878749.1:n.-346C>T
XM_024450292.1:c.-1084C>T XP_024306060.1:n.-1084C>T
XR_001751906.2:n.609C>T
XR_001751907.2:n.609C>T