Canonical Allele Identifier: CA4928228
Gene: PLEC HGNC NCBI

Linked Data

ClinVar Variation Id: 290466
dbSNP Id: rs368425406

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143934713G>A , CM000670.2:g.143934713G>A GRCh38
NC_000008.10:g.145008881G>A , CM000670.1:g.145008881G>A GRCh37
NC_000008.9:g.145080869G>A NCBI36
NG_012492.1:g.47033C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000528025.6:c.1095C>T ENSP00000437303.2:p.Phe365=
ENST00000685198.1:c.1014C>T ENSP00000510528.1:p.Phe338=
ENST00000687971.1:c.681C>T ENSP00000510788.1:p.Phe227=
ENST00000693060.1:c.894C>T ENSP00000510329.1:p.Phe298=
ENST00000345136.8:c.963C>T MANE Select ENSP00000344848.3:p.Phe321=
ENST00000527303.2:c.1044C>T ENSP00000433982.2:p.Phe348=
ENST00000322810.8:c.1374C>T ENSP00000323856.4:p.Phe458=
ENST00000345136.7:c.963C>T ENSP00000344848.3:p.Phe321=
ENST00000354589.7:c.963C>T ENSP00000346602.3:p.Phe321=
ENST00000354958.6:c.897C>T ENSP00000347044.2:p.Phe299=
ENST00000356346.7:c.921C>T MANE Plus Clinical ENSP00000348702.3:p.Phe307=
ENST00000357649.6:c.975C>T ENSP00000350277.2:p.Phe325=
ENST00000398774.6:c.867C>T ENSP00000381756.2:p.Phe289=
ENST00000436759.6:c.1044C>T ENSP00000388180.2:p.Phe348=
ENST00000527096.5:c.1032C>T ENSP00000434583.1:p.Phe344=
ENST00000528025.5:c.1095C>T ENSP00000437303.1:p.Phe365=
NM_000445.4:c.1044C>T NP_000436.2:p.Phe348=
NM_201378.3:c.921C>T NP_958780.1:p.Phe307=
NM_201379.2:c.897C>T NP_958781.1:p.Phe299=
NM_201380.3:c.1374C>T NP_958782.1:p.Phe458=
NM_201381.2:c.867C>T NP_958783.1:p.Phe289=
NM_201382.3:c.963C>T NP_958784.1:p.Phe321=
NM_201383.2:c.975C>T NP_958785.1:p.Phe325=
NM_201384.2:c.963C>T NP_958786.1:p.Phe321=
XM_005250976.2:c.1389C>T XP_005251033.1:p.Phe463=
XM_005250978.2:c.990C>T XP_005251035.1:p.Phe330=
XM_005250979.3:c.978C>T XP_005251036.1:p.Phe326=
XM_005250980.3:c.978C>T XP_005251037.1:p.Phe326=
XM_005250981.2:c.936C>T XP_005251038.1:p.Phe312=
XM_005250982.2:c.912C>T XP_005251039.1:p.Phe304=
XM_005250983.2:c.894C>T XP_005251040.1:p.Phe298=
XM_005250984.3:c.882C>T XP_005251041.1:p.Phe294=
XM_006716588.2:c.1059C>T XP_006716651.1:p.Phe353=
XM_006716589.2:c.909C>T XP_006716652.1:p.Phe303=
XM_006716590.2:c.909C>T XP_006716653.1:p.Phe303=
XM_011517130.1:c.978C>T XP_011515432.1:p.Phe326=
XM_011517131.1:c.894C>T XP_011515433.1:p.Phe298=
XM_011517132.1:c.990C>T XP_011515434.1:p.Phe330=
XM_005250976.4:c.1389C>T XP_005251033.1:p.Phe463=
XM_005250978.3:c.990C>T XP_005251035.1:p.Phe330=
XM_005250979.4:c.978C>T XP_005251036.1:p.Phe326=
XM_005250980.4:c.978C>T XP_005251037.1:p.Phe326=
XM_005250981.3:c.936C>T XP_005251038.1:p.Phe312=
XM_005250982.4:c.912C>T XP_005251039.1:p.Phe304=
XM_005250984.5:c.882C>T XP_005251041.1:p.Phe294=
XM_006716588.3:c.1059C>T XP_006716651.1:p.Phe353=
XM_006716590.3:c.909C>T XP_006716653.1:p.Phe303=
XM_011517130.2:c.978C>T XP_011515432.1:p.Phe326=
XM_011517131.2:c.894C>T XP_011515433.1:p.Phe298=
XM_011517132.2:c.990C>T XP_011515434.1:p.Phe330=
NM_000445.5:c.1044C>T NP_000436.2:p.Phe348=
NM_201378.4:c.921C>T MANE Plus Clinical NP_958780.1:p.Phe307=
NM_201379.3:c.897C>T NP_958781.1:p.Phe299=
NM_201380.4:c.1374C>T NP_958782.1:p.Phe458=
NM_201381.3:c.867C>T NP_958783.1:p.Phe289=
NM_201382.4:c.963C>T NP_958784.1:p.Phe321=
NM_201383.3:c.975C>T NP_958785.1:p.Phe325=
NM_201384.3:c.963C>T MANE Select NP_958786.1:p.Phe321=