Canonical Allele Identifier: CA395183350
Community Standard Title: NM_002582.4(PARN):c.1645C>T (p.Gln549Ter)
Gene: PARN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.14482663G>A , CM000678.2:g.14482663G>A GRCh38
NC_000016.9:g.14576520G>A , CM000678.1:g.14576520G>A GRCh37
NC_000016.8:g.14484021G>A NCBI36
NG_042871.1:g.152609C>T

Transcript Alleles

HGVS Amino-acid Change
NM_002582.4:c.1645C>T MANE Select NP_002573.1:p.Gln549Ter
ENST00000437198.7:c.1645C>T MANE Select ENSP00000387911.2:p.Gln549Ter
NM_001134477.2:c.1462C>T NP_001127949.1:p.Gln488Ter
NM_001134477.3:c.1462C>T NP_001127949.1:p.Gln488Ter
NM_001242992.1:c.1507C>T NP_001229921.1:p.Gln503Ter
NM_001242992.2:c.1507C>T NP_001229921.1:p.Gln503Ter
NM_002582.3:c.1645C>T NP_002573.1:p.Gln549Ter
ENST00000341484.11:c.1462C>T ENSP00000345456.7:p.Gln488Ter
ENST00000420015.6:c.1507C>T ENSP00000410525.2:p.Gln503Ter
ENST00000437198.6:c.1645C>T ENSP00000387911.2:p.Gln549Ter
ENST00000539279.5:c.1120C>T ENSP00000444381.1:p.Gln374Ter
ENST00000564113.6:n.1755C>T
ENST00000564882.5:n.302C>T
ENST00000564904.5:n.443C>T
ENST00000650960.1:c.1645C>T ENSP00000499110.1:p.Gln549Ter
ENST00000650990.1:c.1720C>T ENSP00000498741.1:p.Gln574Ter
ENST00000651049.1:c.1645C>T ENSP00000498644.1:p.Gln549Ter
ENST00000651300.1:c.*1452C>T ENSP00000498294.1:n.*1452C>T
ENST00000651348.1:c.*716C>T ENSP00000498315.1:n.*716C>T
ENST00000651634.1:c.1645C>T ENSP00000499078.1:p.Gln549Ter
ENST00000651760.1:c.2833C>T
ENST00000651865.1:c.1570C>T ENSP00000498567.1:p.Gln524Ter
ENST00000652051.1:c.*421C>T ENSP00000498898.1:n.*421C>T
ENST00000652066.1:c.1546C>T
ENST00000652541.1:c.*1477C>T ENSP00000499206.1:n.*1477C>T
ENST00000652727.1:c.1471C>T ENSP00000498650.1:p.Gln491Ter
ENST00000697471.1:n.2096C>T
ENST00000697472.1:n.1686C>T
ENST00000697473.1:n.3247C>T
ENST00000697474.1:c.1645C>T ENSP00000513329.1:p.Gln549Ter
XM_011522510.1:c.1645C>T XP_011520812.1:p.Gln549Ter
XM_011522510.3:c.1645C>T XP_011520812.1:p.Gln549Ter
XM_011522511.1:c.1645C>T XP_011520813.1:p.Gln549Ter
XM_011522511.2:c.1645C>T XP_011520813.1:p.Gln549Ter
XM_011522512.1:c.1558C>T XP_011520814.1:p.Gln520Ter
XM_011522513.1:c.1462C>T XP_011520815.1:p.Gln488Ter
XM_011522513.2:c.1462C>T XP_011520815.1:p.Gln488Ter
XM_017023258.2:c.1567C>T XP_016878747.1:p.Gln523Ter
XM_017023259.2:c.808C>T XP_016878748.1:p.Gln270Ter
XM_017023260.1:c.808C>T XP_016878749.1:p.Gln270Ter
XM_024450292.1:c.808C>T XP_024306060.1:p.Gln270Ter