Canonical Allele Identifier: CA10575770
Gene: PLEC HGNC NCBI

Linked Data

ClinVar Variation Id: 208860
ClinVar RCV Id: RCV000239385
dbSNP Id: rs879255260

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143933210G>A , CM000670.2:g.143933210G>A GRCh38
NC_000008.10:g.145007378G>A , CM000670.1:g.145007378G>A GRCh37
NC_000008.9:g.145079366G>A NCBI36
NG_012492.1:g.48536C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000528025.6:c.1537C>T ENSP00000437303.2:p.Gln513Ter
ENST00000685198.1:c.1456C>T ENSP00000510528.1:p.Gln486Ter
ENST00000687971.1:c.1123C>T ENSP00000510788.1:p.Gln375Ter
ENST00000693060.1:c.1336C>T ENSP00000510329.1:p.Gln446Ter
ENST00000345136.8:c.1405C>T MANE Select ENSP00000344848.3:p.Gln469Ter
ENST00000527303.2:c.1486C>T ENSP00000433982.2:p.Gln496Ter
ENST00000322810.8:c.1816C>T ENSP00000323856.4:p.Gln606Ter
ENST00000345136.7:c.1405C>T ENSP00000344848.3:p.Gln469Ter
ENST00000354589.7:c.1405C>T ENSP00000346602.3:p.Gln469Ter
ENST00000354958.6:c.1339C>T ENSP00000347044.2:p.Gln447Ter
ENST00000356346.7:c.1363C>T MANE Plus Clinical ENSP00000348702.3:p.Gln455Ter
ENST00000357649.6:c.1417C>T ENSP00000350277.2:p.Gln473Ter
ENST00000398774.6:c.1309C>T ENSP00000381756.2:p.Gln437Ter
ENST00000436759.6:c.1486C>T ENSP00000388180.2:p.Gln496Ter
ENST00000527096.5:c.1474C>T ENSP00000434583.1:p.Gln492Ter
ENST00000528025.5:c.1537C>T ENSP00000437303.1:p.Gln513Ter
NM_000445.4:c.1486C>T NP_000436.2:p.Gln496Ter
NM_201378.3:c.1363C>T NP_958780.1:p.Gln455Ter
NM_201379.2:c.1339C>T NP_958781.1:p.Gln447Ter
NM_201380.3:c.1816C>T NP_958782.1:p.Gln606Ter
NM_201381.2:c.1309C>T NP_958783.1:p.Gln437Ter
NM_201382.3:c.1405C>T NP_958784.1:p.Gln469Ter
NM_201383.2:c.1417C>T NP_958785.1:p.Gln473Ter
NM_201384.2:c.1405C>T NP_958786.1:p.Gln469Ter
XM_005250976.2:c.1831C>T XP_005251033.1:p.Gln611Ter
XM_005250978.2:c.1432C>T XP_005251035.1:p.Gln478Ter
XM_005250979.3:c.1420C>T XP_005251036.1:p.Gln474Ter
XM_005250980.3:c.1420C>T XP_005251037.1:p.Gln474Ter
XM_005250981.2:c.1378C>T XP_005251038.1:p.Gln460Ter
XM_005250982.2:c.1354C>T XP_005251039.1:p.Gln452Ter
XM_005250983.2:c.1336C>T XP_005251040.1:p.Gln446Ter
XM_005250984.3:c.1324C>T XP_005251041.1:p.Gln442Ter
XM_006716588.2:c.1501C>T XP_006716651.1:p.Gln501Ter
XM_006716589.2:c.1351C>T XP_006716652.1:p.Gln451Ter
XM_006716590.2:c.1351C>T XP_006716653.1:p.Gln451Ter
XM_011517130.1:c.1420C>T XP_011515432.1:p.Gln474Ter
XM_011517131.1:c.1336C>T XP_011515433.1:p.Gln446Ter
XM_011517132.1:c.1432C>T XP_011515434.1:p.Gln478Ter
XM_005250976.4:c.1831C>T XP_005251033.1:p.Gln611Ter
XM_005250978.3:c.1432C>T XP_005251035.1:p.Gln478Ter
XM_005250979.4:c.1420C>T XP_005251036.1:p.Gln474Ter
XM_005250980.4:c.1420C>T XP_005251037.1:p.Gln474Ter
XM_005250981.3:c.1378C>T XP_005251038.1:p.Gln460Ter
XM_005250982.4:c.1354C>T XP_005251039.1:p.Gln452Ter
XM_005250984.5:c.1324C>T XP_005251041.1:p.Gln442Ter
XM_006716588.3:c.1501C>T XP_006716651.1:p.Gln501Ter
XM_006716590.3:c.1351C>T XP_006716653.1:p.Gln451Ter
XM_011517130.2:c.1420C>T XP_011515432.1:p.Gln474Ter
XM_011517131.2:c.1336C>T XP_011515433.1:p.Gln446Ter
XM_011517132.2:c.1432C>T XP_011515434.1:p.Gln478Ter
NM_000445.5:c.1486C>T NP_000436.2:p.Gln496Ter
NM_201378.4:c.1363C>T MANE Plus Clinical NP_958780.1:p.Gln455Ter
NM_201379.3:c.1339C>T NP_958781.1:p.Gln447Ter
NM_201380.4:c.1816C>T NP_958782.1:p.Gln606Ter
NM_201381.3:c.1309C>T NP_958783.1:p.Gln437Ter
NM_201382.4:c.1405C>T NP_958784.1:p.Gln469Ter
NM_201383.3:c.1417C>T NP_958785.1:p.Gln473Ter
NM_201384.3:c.1405C>T MANE Select NP_958786.1:p.Gln469Ter