Canonical Allele Identifier: CA7912349

Gene: PARN

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.14606521G>A , CM000678.2:g.14606521G>A	GRCh38
NC_000016.9:g.14700378G>A , CM000678.1:g.14700378G>A	GRCh37
NC_000016.8:g.14607879G>A	NCBI36
NG_042871.1:g.28751C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002582.4:c.665C>T MANE Select	NP_002573.1:p.Pro222Leu
ENST00000437198.7:c.665C>T MANE Select	ENSP00000387911.2:p.Pro222Leu
NM_001134477.2:c.482C>T	NP_001127949.1:p.Pro161Leu
NM_001134477.3:c.482C>T	NP_001127949.1:p.Pro161Leu
NM_001242992.1:c.527C>T	NP_001229921.1:p.Pro176Leu
NM_001242992.2:c.527C>T	NP_001229921.1:p.Pro176Leu
NM_002582.3:c.665C>T	NP_002573.1:p.Pro222Leu
ENST00000341484.11:c.482C>T	ENSP00000345456.7:p.Pro161Leu
ENST00000420015.6:c.527C>T	ENSP00000410525.2:p.Pro176Leu
ENST00000437198.6:c.665C>T	ENSP00000387911.2:p.Pro222Leu
ENST00000538472.5:c.608+1760C>T	ENSP00000445659.1:n.608+1760C>T
ENST00000539279.5:c.178-2295C>T	ENSP00000444381.1:n.178-2295C>T
ENST00000563641.5:c.*399C>T	ENSP00000458103.1:n.*399C>T
ENST00000563641.6:c.*429C>T	ENSP00000458103.1:n.*429C>T
ENST00000564113.6:n.775C>T
ENST00000569444.5:c.211C>T
ENST00000650960.1:c.665C>T	ENSP00000499110.1:p.Pro222Leu
ENST00000650990.1:c.665C>T	ENSP00000498741.1:p.Pro222Leu
ENST00000651027.1:c.665C>T	ENSP00000498640.1:p.Pro222Leu
ENST00000651049.1:c.665C>T	ENSP00000498644.1:p.Pro222Leu
ENST00000651241.1:n.1691C>T
ENST00000651300.1:c.*559C>T	ENSP00000498294.1:n.*559C>T
ENST00000651348.1:c.665C>T	ENSP00000498315.1:p.Pro222Leu
ENST00000651634.1:c.665C>T	ENSP00000499078.1:p.Pro222Leu
ENST00000651760.1:c.465C>T
ENST00000651865.1:c.515C>T	ENSP00000498567.1:p.Pro172Leu
ENST00000651913.1:c.615C>T
ENST00000652051.1:c.665C>T	ENSP00000498898.1:p.Pro222Leu
ENST00000652066.1:c.370C>T
ENST00000652411.1:n.822C>T
ENST00000652501.1:c.665C>T	ENSP00000498261.1:p.Pro222Leu
ENST00000652541.1:c.*399C>T	ENSP00000499206.1:n.*399C>T
ENST00000652727.1:c.665C>T	ENSP00000498650.1:p.Pro222Leu
ENST00000697471.1:n.1116C>T
ENST00000697472.1:n.706C>T
ENST00000697473.1:n.2310C>T
ENST00000697474.1:c.665C>T	ENSP00000513329.1:p.Pro222Leu
ENST00000697475.1:n.820C>T
ENST00000697476.1:n.798C>T
ENST00000697477.1:n.800C>T
XM_011522510.1:c.665C>T	XP_011520812.1:p.Pro222Leu
XM_011522510.3:c.665C>T	XP_011520812.1:p.Pro222Leu
XM_011522511.1:c.665C>T	XP_011520813.1:p.Pro222Leu
XM_011522511.2:c.665C>T	XP_011520813.1:p.Pro222Leu
XM_011522512.1:c.665C>T	XP_011520814.1:p.Pro222Leu
XM_011522513.1:c.482C>T	XP_011520815.1:p.Pro161Leu
XM_011522513.2:c.482C>T	XP_011520815.1:p.Pro161Leu
XM_011522514.1:c.665C>T	XP_011520816.1:p.Pro222Leu
XM_011522514.2:c.665C>T	XP_011520816.1:p.Pro222Leu
XM_017023258.2:c.665C>T	XP_016878747.1:p.Pro222Leu
XM_017023259.2:c.-129C>T	XP_016878748.1:n.-129C>T
XM_017023260.1:c.-129C>T	XP_016878749.1:n.-129C>T
XM_024450292.1:c.-129C>T	XP_024306060.1:n.-129C>T
XR_001751906.2:n.826C>T
XR_001751907.2:n.826C>T