Canonical Allele Identifier: CA4926619
Community Standard Title: NM_201384.3(PLEC):c.4563G>A (p.Val1521=)
Gene: PLEC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143925366C>T , CM000670.2:g.143925366C>T GRCh38
NC_000008.10:g.144999534C>T , CM000670.1:g.144999534C>T GRCh37
NC_000008.9:g.145071522C>T NCBI36
NG_012492.1:g.56380G>A

Transcript Alleles

HGVS Amino-acid Change
NM_201384.3:c.4563G>A MANE Select NP_958786.1:p.Val1521=
ENST00000345136.8:c.4563G>A MANE Select ENSP00000344848.3:p.Val1521=
NM_201378.4:c.4521G>A MANE Plus Clinical NP_958780.1:p.Val1507=
ENST00000356346.7:c.4521G>A MANE Plus Clinical ENSP00000348702.3:p.Val1507=
NM_000445.4:c.4644G>A NP_000436.2:p.Val1548=
NM_000445.5:c.4644G>A NP_000436.2:p.Val1548=
NM_201378.3:c.4521G>A NP_958780.1:p.Val1507=
NM_201379.2:c.4497G>A NP_958781.1:p.Val1499=
NM_201379.3:c.4497G>A NP_958781.1:p.Val1499=
NM_201380.3:c.4974G>A NP_958782.1:p.Val1658=
NM_201380.4:c.4974G>A NP_958782.1:p.Val1658=
NM_201381.2:c.4467G>A NP_958783.1:p.Val1489=
NM_201381.3:c.4467G>A NP_958783.1:p.Val1489=
NM_201382.3:c.4563G>A NP_958784.1:p.Val1521=
NM_201382.4:c.4563G>A NP_958784.1:p.Val1521=
NM_201383.2:c.4575G>A NP_958785.1:p.Val1525=
NM_201383.3:c.4575G>A NP_958785.1:p.Val1525=
NM_201384.2:c.4563G>A NP_958786.1:p.Val1521=
ENST00000322810.8:c.4974G>A ENSP00000323856.4:p.Val1658=
ENST00000345136.7:c.4563G>A ENSP00000344848.3:p.Val1521=
ENST00000354589.7:c.4563G>A ENSP00000346602.3:p.Val1521=
ENST00000354958.6:c.4497G>A ENSP00000347044.2:p.Val1499=
ENST00000357649.6:c.4575G>A ENSP00000350277.2:p.Val1525=
ENST00000398774.6:c.4467G>A ENSP00000381756.2:p.Val1489=
ENST00000436759.6:c.4644G>A ENSP00000388180.2:p.Val1548=
ENST00000527096.5:c.4632G>A ENSP00000434583.1:p.Val1544=
ENST00000527303.1:c.134+1418G>A
ENST00000527303.2:c.4125+1418G>A ENSP00000433982.2:n.4125+1418G>A
ENST00000528025.6:c.4695G>A ENSP00000437303.2:p.Val1565=
ENST00000685198.1:c.4614G>A ENSP00000510528.1:p.Val1538=
ENST00000687971.1:c.4281G>A ENSP00000510788.1:p.Val1427=
ENST00000693060.1:c.4494G>A ENSP00000510329.1:p.Val1498=
XM_005250976.2:c.4989G>A XP_005251033.1:p.Val1663=
XM_005250976.4:c.4989G>A XP_005251033.1:p.Val1663=
XM_005250978.2:c.4590G>A XP_005251035.1:p.Val1530=
XM_005250978.3:c.4590G>A XP_005251035.1:p.Val1530=
XM_005250979.3:c.4578G>A XP_005251036.1:p.Val1526=
XM_005250979.4:c.4578G>A XP_005251036.1:p.Val1526=
XM_005250980.3:c.4578G>A XP_005251037.1:p.Val1526=
XM_005250980.4:c.4578G>A XP_005251037.1:p.Val1526=
XM_005250981.2:c.4536G>A XP_005251038.1:p.Val1512=
XM_005250981.3:c.4536G>A XP_005251038.1:p.Val1512=
XM_005250982.2:c.4512G>A XP_005251039.1:p.Val1504=
XM_005250982.4:c.4512G>A XP_005251039.1:p.Val1504=
XM_005250983.2:c.4494G>A XP_005251040.1:p.Val1498=
XM_005250984.3:c.4482G>A XP_005251041.1:p.Val1494=
XM_005250984.5:c.4482G>A XP_005251041.1:p.Val1494=
XM_006716588.2:c.4659G>A XP_006716651.1:p.Val1553=
XM_006716588.3:c.4659G>A XP_006716651.1:p.Val1553=
XM_006716589.2:c.4509G>A XP_006716652.1:p.Val1503=
XM_006716590.2:c.4509G>A XP_006716653.1:p.Val1503=
XM_006716590.3:c.4509G>A XP_006716653.1:p.Val1503=
XM_011517130.1:c.4578G>A XP_011515432.1:p.Val1526=
XM_011517130.2:c.4578G>A XP_011515432.1:p.Val1526=
XM_011517131.1:c.4494G>A XP_011515433.1:p.Val1498=
XM_011517131.2:c.4494G>A XP_011515433.1:p.Val1498=
XM_011517132.1:c.4071+1418G>A XP_011515434.1:n.4071+1418G>A
XM_011517132.2:c.4071+1418G>A XP_011515434.1:n.4071+1418G>A