Canonical Allele Identifier: CA394811593
Community Standard Title: NM_002582.4(PARN):c.1405+1G>T
Gene: PARN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.14554064C>A , CM000678.2:g.14554064C>A GRCh38
NC_000016.9:g.14647921C>A , CM000678.1:g.14647921C>A GRCh37
NC_000016.8:g.14555422C>A NCBI36
NG_042871.1:g.81208G>T

Transcript Alleles

HGVS Amino-acid Change
NM_002582.4:c.1405+1G>T MANE Select NP_002573.1:n.1405+1G>T
ENST00000437198.7:c.1405+1G>T MANE Select ENSP00000387911.2:n.1405+1G>T
NM_001134477.2:c.1222+1G>T NP_001127949.1:n.1222+1G>T
NM_001134477.3:c.1222+1G>T NP_001127949.1:n.1222+1G>T
NM_001242992.1:c.1267+1G>T NP_001229921.1:n.1267+1G>T
NM_001242992.2:c.1267+1G>T NP_001229921.1:n.1267+1G>T
NM_002582.3:c.1405+1G>T NP_002573.1:n.1405+1G>T
ENST00000341484.11:c.1222+1G>T ENSP00000345456.7:n.1222+1G>T
ENST00000420015.6:c.1267+1G>T ENSP00000410525.2:n.1267+1G>T
ENST00000437198.6:c.1405+1G>T ENSP00000387911.2:n.1405+1G>T
ENST00000539279.5:c.880+1G>T ENSP00000444381.1:n.880+1G>T
ENST00000564113.6:n.1515+1G>T
ENST00000564904.5:n.203+1G>T
ENST00000650960.1:c.1405+1G>T ENSP00000499110.1:n.1405+1G>T
ENST00000650990.1:c.1480+1G>T ENSP00000498741.1:n.1480+1G>T
ENST00000651027.1:c.1405+1G>T ENSP00000498640.1:n.1405+1G>T
ENST00000651049.1:c.1405+1G>T ENSP00000498644.1:n.1405+1G>T
ENST00000651300.1:c.*1212+1590G>T ENSP00000498294.1:n.*1212+1590G>T
ENST00000651348.1:c.*476+1G>T ENSP00000498315.1:n.*476+1G>T
ENST00000651634.1:c.1405+1G>T ENSP00000499078.1:n.1405+1G>T
ENST00000651760.1:c.2593+1G>T
ENST00000651865.1:c.1330+1G>T ENSP00000498567.1:n.1330+1G>T
ENST00000651913.1:c.1352+1G>T
ENST00000652051.1:c.*181+1G>T ENSP00000498898.1:n.*181+1G>T
ENST00000652066.1:c.1185+1G>T
ENST00000652411.1:n.1562+1G>T
ENST00000652501.1:c.1405+1G>T ENSP00000498261.1:n.1405+1G>T
ENST00000652541.1:c.*1237+1G>T ENSP00000499206.1:n.*1237+1G>T
ENST00000652727.1:c.1231+1590G>T ENSP00000498650.1:n.1231+1590G>T
ENST00000697471.1:n.1856+1G>T
ENST00000697472.1:n.1446+1G>T
ENST00000697473.1:n.3007+1G>T
ENST00000697474.1:c.1405+1G>T ENSP00000513329.1:n.1405+1G>T
ENST00000697475.1:n.1560+1G>T
ENST00000697476.1:n.1538+1G>T
XM_011522510.1:c.1405+1G>T XP_011520812.1:n.1405+1G>T
XM_011522510.3:c.1405+1G>T XP_011520812.1:n.1405+1G>T
XM_011522511.1:c.1405+1G>T XP_011520813.1:n.1405+1G>T
XM_011522511.2:c.1405+1G>T XP_011520813.1:n.1405+1G>T
XM_011522512.1:c.1318+1590G>T XP_011520814.1:n.1318+1590G>T
XM_011522513.1:c.1222+1G>T XP_011520815.1:n.1222+1G>T
XM_011522513.2:c.1222+1G>T XP_011520815.1:n.1222+1G>T
XM_017023258.2:c.1327+1G>T XP_016878747.1:n.1327+1G>T
XM_017023259.2:c.568+1G>T XP_016878748.1:n.568+1G>T
XM_017023260.1:c.568+1G>T XP_016878749.1:n.568+1G>T
XM_024450292.1:c.568+1G>T XP_024306060.1:n.568+1G>T
XR_001751906.2:n.1522+1G>T