Canonical Allele Identifier: CA278954412
Community Standard Title: NM_002582.4(PARN):c.1624C>T (p.Gln542Ter)
Gene: PARN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.14482684G>A , CM000678.2:g.14482684G>A GRCh38
NC_000016.9:g.14576541G>A , CM000678.1:g.14576541G>A GRCh37
NC_000016.8:g.14484042G>A NCBI36
NG_042871.1:g.152588C>T

Transcript Alleles

HGVS Amino-acid Change
NM_002582.4:c.1624C>T MANE Select NP_002573.1:p.Gln542Ter
ENST00000437198.7:c.1624C>T MANE Select ENSP00000387911.2:p.Gln542Ter
NM_001134477.2:c.1441C>T NP_001127949.1:p.Gln481Ter
NM_001134477.3:c.1441C>T NP_001127949.1:p.Gln481Ter
NM_001242992.1:c.1486C>T NP_001229921.1:p.Gln496Ter
NM_001242992.2:c.1486C>T NP_001229921.1:p.Gln496Ter
NM_002582.3:c.1624C>T NP_002573.1:p.Gln542Ter
ENST00000341484.11:c.1441C>T ENSP00000345456.7:p.Gln481Ter
ENST00000420015.6:c.1486C>T ENSP00000410525.2:p.Gln496Ter
ENST00000437198.6:c.1624C>T ENSP00000387911.2:p.Gln542Ter
ENST00000539279.5:c.1099C>T ENSP00000444381.1:p.Gln367Ter
ENST00000564113.6:n.1734C>T
ENST00000564882.5:n.281C>T
ENST00000564904.5:n.422C>T
ENST00000650960.1:c.1624C>T ENSP00000499110.1:p.Gln542Ter
ENST00000650990.1:c.1699C>T ENSP00000498741.1:p.Gln567Ter
ENST00000651049.1:c.1624C>T ENSP00000498644.1:p.Gln542Ter
ENST00000651300.1:c.*1431C>T ENSP00000498294.1:n.*1431C>T
ENST00000651348.1:c.*695C>T ENSP00000498315.1:n.*695C>T
ENST00000651634.1:c.1624C>T ENSP00000499078.1:p.Gln542Ter
ENST00000651760.1:c.2812C>T
ENST00000651865.1:c.1549C>T ENSP00000498567.1:p.Gln517Ter
ENST00000652051.1:c.*400C>T ENSP00000498898.1:n.*400C>T
ENST00000652066.1:c.1525C>T
ENST00000652541.1:c.*1456C>T ENSP00000499206.1:n.*1456C>T
ENST00000652727.1:c.1450C>T ENSP00000498650.1:p.Gln484Ter
ENST00000697471.1:n.2075C>T
ENST00000697472.1:n.1665C>T
ENST00000697473.1:n.3226C>T
ENST00000697474.1:c.1624C>T ENSP00000513329.1:p.Gln542Ter
XM_011522510.1:c.1624C>T XP_011520812.1:p.Gln542Ter
XM_011522510.3:c.1624C>T XP_011520812.1:p.Gln542Ter
XM_011522511.1:c.1624C>T XP_011520813.1:p.Gln542Ter
XM_011522511.2:c.1624C>T XP_011520813.1:p.Gln542Ter
XM_011522512.1:c.1537C>T XP_011520814.1:p.Gln513Ter
XM_011522513.1:c.1441C>T XP_011520815.1:p.Gln481Ter
XM_011522513.2:c.1441C>T XP_011520815.1:p.Gln481Ter
XM_017023258.2:c.1546C>T XP_016878747.1:p.Gln516Ter
XM_017023259.2:c.787C>T XP_016878748.1:p.Gln263Ter
XM_017023260.1:c.787C>T XP_016878749.1:p.Gln263Ter
XM_024450292.1:c.787C>T XP_024306060.1:p.Gln263Ter