Canonical Allele Identifier: CA278514598
Community Standard Title: NM_002582.4(PARN):c.1414C>T (p.Gln472Ter)
Gene: PARN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.14552087G>A , CM000678.2:g.14552087G>A GRCh38
NC_000016.9:g.14645944G>A , CM000678.1:g.14645944G>A GRCh37
NC_000016.8:g.14553445G>A NCBI36
NG_042871.1:g.83185C>T

Transcript Alleles

HGVS Amino-acid Change
NM_002582.4:c.1414C>T MANE Select NP_002573.1:p.Gln472Ter
ENST00000437198.7:c.1414C>T MANE Select ENSP00000387911.2:p.Gln472Ter
NM_001134477.2:c.1231C>T NP_001127949.1:p.Gln411Ter
NM_001134477.3:c.1231C>T NP_001127949.1:p.Gln411Ter
NM_001242992.1:c.1276C>T NP_001229921.1:p.Gln426Ter
NM_001242992.2:c.1276C>T NP_001229921.1:p.Gln426Ter
NM_002582.3:c.1414C>T NP_002573.1:p.Gln472Ter
ENST00000341484.11:c.1231C>T ENSP00000345456.7:p.Gln411Ter
ENST00000420015.6:c.1276C>T ENSP00000410525.2:p.Gln426Ter
ENST00000437198.6:c.1414C>T ENSP00000387911.2:p.Gln472Ter
ENST00000539279.5:c.889C>T ENSP00000444381.1:p.Gln297Ter
ENST00000564113.6:n.1524C>T
ENST00000564904.5:n.212C>T
ENST00000650960.1:c.1414C>T ENSP00000499110.1:p.Gln472Ter
ENST00000650990.1:c.1489C>T ENSP00000498741.1:p.Gln497Ter
ENST00000651027.1:c.1414C>T ENSP00000498640.1:p.Gln472Ter
ENST00000651049.1:c.1414C>T ENSP00000498644.1:p.Gln472Ter
ENST00000651300.1:c.*1221C>T ENSP00000498294.1:n.*1221C>T
ENST00000651348.1:c.*485C>T ENSP00000498315.1:n.*485C>T
ENST00000651634.1:c.1414C>T ENSP00000499078.1:p.Gln472Ter
ENST00000651760.1:c.2602C>T
ENST00000651865.1:c.1339C>T ENSP00000498567.1:p.Gln447Ter
ENST00000651913.1:c.1361C>T
ENST00000652051.1:c.*190C>T ENSP00000498898.1:n.*190C>T
ENST00000652066.1:c.1194C>T
ENST00000652411.1:n.1571C>T
ENST00000652501.1:c.1414C>T ENSP00000498261.1:p.Gln472Ter
ENST00000652541.1:c.*1246C>T ENSP00000499206.1:n.*1246C>T
ENST00000652727.1:c.1240C>T ENSP00000498650.1:p.Gln414Ter
ENST00000697471.1:n.1865C>T
ENST00000697472.1:n.1455C>T
ENST00000697473.1:n.3016C>T
ENST00000697474.1:c.1414C>T ENSP00000513329.1:p.Gln472Ter
ENST00000697475.1:n.1569C>T
ENST00000697476.1:n.1547C>T
XM_011522510.1:c.1414C>T XP_011520812.1:p.Gln472Ter
XM_011522510.3:c.1414C>T XP_011520812.1:p.Gln472Ter
XM_011522511.1:c.1414C>T XP_011520813.1:p.Gln472Ter
XM_011522511.2:c.1414C>T XP_011520813.1:p.Gln472Ter
XM_011522512.1:c.1327C>T XP_011520814.1:p.Gln443Ter
XM_011522513.1:c.1231C>T XP_011520815.1:p.Gln411Ter
XM_011522513.2:c.1231C>T XP_011520815.1:p.Gln411Ter
XM_017023258.2:c.1336C>T XP_016878747.1:p.Gln446Ter
XM_017023259.2:c.577C>T XP_016878748.1:p.Gln193Ter
XM_017023260.1:c.577C>T XP_016878749.1:p.Gln193Ter
XM_024450292.1:c.577C>T XP_024306060.1:p.Gln193Ter
XR_001751906.2:n.1531C>T