Canonical Allele Identifier: CA280938
Community Standard Title: NM_002582.4(PARN):c.1045C>T (p.Arg349Trp)
Gene: PARN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.14584383G>A , CM000678.2:g.14584383G>A GRCh38
NC_000016.9:g.14678240G>A , CM000678.1:g.14678240G>A GRCh37
NC_000016.8:g.14585741G>A NCBI36
NG_042871.1:g.50889C>T

Transcript Alleles

HGVS Amino-acid Change
NM_002582.4:c.1045C>T MANE Select NP_002573.1:p.Arg349Trp
ENST00000437198.7:c.1045C>T MANE Select ENSP00000387911.2:p.Arg349Trp
NM_001134477.2:c.862C>T NP_001127949.1:p.Arg288Trp
NM_001134477.3:c.862C>T NP_001127949.1:p.Arg288Trp
NM_001242992.1:c.907C>T NP_001229921.1:p.Arg303Trp
NM_001242992.2:c.907C>T NP_001229921.1:p.Arg303Trp
NM_002582.3:c.1045C>T NP_002573.1:p.Arg349Trp
ENST00000341484.11:c.862C>T ENSP00000345456.7:p.Arg288Trp
ENST00000420015.6:c.907C>T ENSP00000410525.2:p.Arg303Trp
ENST00000437198.6:c.1045C>T ENSP00000387911.2:p.Arg349Trp
ENST00000539279.5:c.520C>T ENSP00000444381.1:p.Arg174Trp
ENST00000562715.1:n.83C>T
ENST00000563641.6:c.*809C>T ENSP00000458103.1:n.*809C>T
ENST00000563697.5:n.52C>T
ENST00000564113.5:n.292C>T
ENST00000564113.6:n.1155C>T
ENST00000569444.5:c.510C>T
ENST00000650960.1:c.1045C>T ENSP00000499110.1:p.Arg349Trp
ENST00000650990.1:c.1120C>T ENSP00000498741.1:p.Arg374Trp
ENST00000651027.1:c.1045C>T ENSP00000498640.1:p.Arg349Trp
ENST00000651049.1:c.1045C>T ENSP00000498644.1:p.Arg349Trp
ENST00000651300.1:c.*939C>T ENSP00000498294.1:n.*939C>T
ENST00000651348.1:c.*116C>T ENSP00000498315.1:n.*116C>T
ENST00000651634.1:c.1045C>T ENSP00000499078.1:p.Arg349Trp
ENST00000651760.1:c.2233C>T
ENST00000651865.1:c.970C>T ENSP00000498567.1:p.Arg324Trp
ENST00000651913.1:c.992C>T
ENST00000652051.1:c.1045C>T ENSP00000498898.1:p.Arg349Trp
ENST00000652066.1:c.825C>T
ENST00000652411.1:n.1202C>T
ENST00000652501.1:c.1045C>T ENSP00000498261.1:p.Arg349Trp
ENST00000652541.1:c.*779C>T ENSP00000499206.1:n.*779C>T
ENST00000652727.1:c.958C>T ENSP00000498650.1:p.Arg320Trp
ENST00000697471.1:n.1496C>T
ENST00000697472.1:n.1086C>T
ENST00000697473.1:n.2647C>T
ENST00000697474.1:c.1045C>T ENSP00000513329.1:p.Arg349Trp
ENST00000697475.1:n.1200C>T
ENST00000697476.1:n.1178C>T
XM_011522510.1:c.1045C>T XP_011520812.1:p.Arg349Trp
XM_011522510.3:c.1045C>T XP_011520812.1:p.Arg349Trp
XM_011522511.1:c.1045C>T XP_011520813.1:p.Arg349Trp
XM_011522511.2:c.1045C>T XP_011520813.1:p.Arg349Trp
XM_011522512.1:c.1045C>T XP_011520814.1:p.Arg349Trp
XM_011522513.1:c.862C>T XP_011520815.1:p.Arg288Trp
XM_011522513.2:c.862C>T XP_011520815.1:p.Arg288Trp
XM_011522514.1:c.1045C>T XP_011520816.1:p.Arg349Trp
XM_011522514.2:c.1045C>T XP_011520816.1:p.Arg349Trp
XM_017023258.2:c.967C>T XP_016878747.1:p.Arg323Trp
XM_017023259.2:c.208C>T XP_016878748.1:p.Arg70Trp
XM_017023260.1:c.208C>T XP_016878749.1:p.Arg70Trp
XM_024450292.1:c.208C>T XP_024306060.1:p.Arg70Trp
XR_001751906.2:n.1162C>T
XR_001751907.2:n.1162C>T