Canonical Allele Identifier: CA394801859
Community Standard Title: NM_002582.4(PARN):c.1123C>T (p.Gln375Ter)
Gene: PARN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.14582250G>A , CM000678.2:g.14582250G>A GRCh38
NC_000016.9:g.14676107G>A , CM000678.1:g.14676107G>A GRCh37
NC_000016.8:g.14583608G>A NCBI36
NG_042871.1:g.53022C>T

Transcript Alleles

HGVS Amino-acid Change
NM_002582.4:c.1123C>T MANE Select NP_002573.1:p.Gln375Ter
ENST00000437198.7:c.1123C>T MANE Select ENSP00000387911.2:p.Gln375Ter
NM_001134477.2:c.940C>T NP_001127949.1:p.Gln314Ter
NM_001134477.3:c.940C>T NP_001127949.1:p.Gln314Ter
NM_001242992.1:c.985C>T NP_001229921.1:p.Gln329Ter
NM_001242992.2:c.985C>T NP_001229921.1:p.Gln329Ter
NM_002582.3:c.1123C>T NP_002573.1:p.Gln375Ter
ENST00000341484.11:c.940C>T ENSP00000345456.7:p.Gln314Ter
ENST00000420015.6:c.985C>T ENSP00000410525.2:p.Gln329Ter
ENST00000437198.6:c.1123C>T ENSP00000387911.2:p.Gln375Ter
ENST00000539279.5:c.598C>T ENSP00000444381.1:p.Gln200Ter
ENST00000562715.1:n.161C>T
ENST00000563641.6:c.*887C>T ENSP00000458103.1:n.*887C>T
ENST00000563697.5:n.130C>T
ENST00000564113.5:n.370C>T
ENST00000564113.6:n.1233C>T
ENST00000569444.5:c.588C>T
ENST00000650960.1:c.1123C>T ENSP00000499110.1:p.Gln375Ter
ENST00000650990.1:c.1198C>T ENSP00000498741.1:p.Gln400Ter
ENST00000651027.1:c.1123C>T ENSP00000498640.1:p.Gln375Ter
ENST00000651049.1:c.1123C>T ENSP00000498644.1:p.Gln375Ter
ENST00000651300.1:c.*1017C>T ENSP00000498294.1:n.*1017C>T
ENST00000651348.1:c.*194C>T ENSP00000498315.1:n.*194C>T
ENST00000651634.1:c.1123C>T ENSP00000499078.1:p.Gln375Ter
ENST00000651760.1:c.2311C>T
ENST00000651865.1:c.1048C>T ENSP00000498567.1:p.Gln350Ter
ENST00000651913.1:c.1070C>T
ENST00000652051.1:c.1123C>T ENSP00000498898.1:p.Gln375Ter
ENST00000652066.1:c.903C>T
ENST00000652411.1:n.1280C>T
ENST00000652501.1:c.1123C>T ENSP00000498261.1:p.Gln375Ter
ENST00000652541.1:c.*857C>T ENSP00000499206.1:n.*857C>T
ENST00000652727.1:c.1036C>T ENSP00000498650.1:p.Gln346Ter
ENST00000697471.1:n.1574C>T
ENST00000697472.1:n.1164C>T
ENST00000697473.1:n.2725C>T
ENST00000697474.1:c.1123C>T ENSP00000513329.1:p.Gln375Ter
ENST00000697475.1:n.1278C>T
ENST00000697476.1:n.1256C>T
XM_011522510.1:c.1123C>T XP_011520812.1:p.Gln375Ter
XM_011522510.3:c.1123C>T XP_011520812.1:p.Gln375Ter
XM_011522511.1:c.1123C>T XP_011520813.1:p.Gln375Ter
XM_011522511.2:c.1123C>T XP_011520813.1:p.Gln375Ter
XM_011522512.1:c.1123C>T XP_011520814.1:p.Gln375Ter
XM_011522513.1:c.940C>T XP_011520815.1:p.Gln314Ter
XM_011522513.2:c.940C>T XP_011520815.1:p.Gln314Ter
XM_011522514.1:c.1123C>T XP_011520816.1:p.Gln375Ter
XM_011522514.2:c.1123C>T XP_011520816.1:p.Gln375Ter
XM_017023258.2:c.1045C>T XP_016878747.1:p.Gln349Ter
XM_017023259.2:c.286C>T XP_016878748.1:p.Gln96Ter
XM_017023260.1:c.286C>T XP_016878749.1:p.Gln96Ter
XM_024450292.1:c.286C>T XP_024306060.1:p.Gln96Ter
XR_001751906.2:n.1240C>T
XR_001751907.2:n.1240C>T