Canonical Allele Identifier: CA250319

Gene: PARN

Linked Data

• ClinVar Variation Id: 180661
• ClinVar RCV Id: RCV000162313 ; RCV000170484
• dbSNP Id: rs786200999
• MyVariant Identifiers: chr16:g.14676082G>A (hg19) ; chr16:g.14582225G>A (hg38)
• PubMed: PMID:25893599

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.14582225G>A , CM000678.2:g.14582225G>A	GRCh38
NC_000016.9:g.14676082G>A , CM000678.1:g.14676082G>A	GRCh37
NC_000016.8:g.14583583G>A	NCBI36
NG_042871.1:g.53047C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697471.1:n.1599C>T
ENST00000697472.1:n.1189C>T
ENST00000697473.1:n.2750C>T
ENST00000697474.1:c.1148C>T	ENSP00000513329.1:p.Ala383Val
ENST00000697475.1:n.1303C>T
ENST00000697476.1:n.1281C>T
ENST00000437198.7:c.1148C>T MANE Select	ENSP00000387911.2:p.Ala383Val
ENST00000563641.6:c.*912C>T	ENSP00000458103.1:n.*912C>T
ENST00000564113.6:n.1258C>T
ENST00000650960.1:c.1148C>T	ENSP00000499110.1:p.Ala383Val
ENST00000650990.1:c.1223C>T	ENSP00000498741.1:p.Ala408Val
ENST00000651027.1:c.1148C>T	ENSP00000498640.1:p.Ala383Val
ENST00000651049.1:c.1148C>T	ENSP00000498644.1:p.Ala383Val
ENST00000651300.1:c.*1042C>T	ENSP00000498294.1:n.*1042C>T
ENST00000651348.1:c.*219C>T	ENSP00000498315.1:n.*219C>T
ENST00000651634.1:c.1148C>T	ENSP00000499078.1:p.Ala383Val
ENST00000651760.1:c.2336C>T
ENST00000651865.1:c.1073C>T	ENSP00000498567.1:p.Ala358Val
ENST00000651913.1:c.1095C>T
ENST00000652051.1:c.1148C>T	ENSP00000498898.1:p.Ala383Val
ENST00000652066.1:c.928C>T
ENST00000652411.1:n.1305C>T
ENST00000652501.1:c.1148C>T	ENSP00000498261.1:p.Ala383Val
ENST00000652541.1:c.*882C>T	ENSP00000499206.1:n.*882C>T
ENST00000652727.1:c.1061C>T	ENSP00000498650.1:p.Ala354Val
ENST00000341484.11:c.965C>T	ENSP00000345456.7:p.Ala322Val
ENST00000420015.6:c.1010C>T	ENSP00000410525.2:p.Ala337Val
ENST00000437198.6:c.1148C>T	ENSP00000387911.2:p.Ala383Val
ENST00000539279.5:c.623C>T	ENSP00000444381.1:p.Ala208Val
ENST00000562715.1:n.186C>T
ENST00000563697.5:n.155C>T
ENST00000564113.5:n.395C>T
ENST00000569444.5:c.613C>T
NM_001134477.2:c.965C>T	NP_001127949.1:p.Ala322Val
NM_001242992.1:c.1010C>T	NP_001229921.1:p.Ala337Val
NM_002582.3:c.1148C>T	NP_002573.1:p.Ala383Val
XM_011522510.1:c.1148C>T	XP_011520812.1:p.Ala383Val
XM_011522511.1:c.1148C>T	XP_011520813.1:p.Ala383Val
XM_011522512.1:c.1148C>T	XP_011520814.1:p.Ala383Val
XM_011522513.1:c.965C>T	XP_011520815.1:p.Ala322Val
XM_011522514.1:c.1148C>T	XP_011520816.1:p.Ala383Val
NM_002582.4:c.1148C>T MANE Select	NP_002573.1:p.Ala383Val
XM_011522510.3:c.1148C>T	XP_011520812.1:p.Ala383Val
XM_011522511.2:c.1148C>T	XP_011520813.1:p.Ala383Val
XM_011522513.2:c.965C>T	XP_011520815.1:p.Ala322Val
XM_011522514.2:c.1148C>T	XP_011520816.1:p.Ala383Val
XM_017023258.2:c.1070C>T	XP_016878747.1:p.Ala357Val
XM_017023259.2:c.311C>T	XP_016878748.1:p.Ala104Val
XM_017023260.1:c.311C>T	XP_016878749.1:p.Ala104Val
XM_024450292.1:c.311C>T	XP_024306060.1:p.Ala104Val
XR_001751906.2:n.1265C>T
XR_001751907.2:n.1265C>T
NM_001134477.3:c.965C>T	NP_001127949.1:p.Ala322Val
NM_001242992.2:c.1010C>T	NP_001229921.1:p.Ala337Val