Canonical Allele Identifier: CA372474205
Gene: PLEC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143916332A>T , CM000670.2:g.143916332A>T GRCh38
NC_000008.10:g.144990500A>T , CM000670.1:g.144990500A>T GRCh37
NC_000008.9:g.145062488A>T NCBI36
NG_012492.1:g.65414T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000528025.6:c.13621T>A ENSP00000437303.2:p.Ser4541Thr
ENST00000685198.1:c.13540T>A ENSP00000510528.1:p.Ser4514Thr
ENST00000687971.1:c.13207T>A ENSP00000510788.1:p.Ser4403Thr
ENST00000693060.1:c.13420T>A ENSP00000510329.1:p.Ser4474Thr
ENST00000345136.8:c.13489T>A MANE Select ENSP00000344848.3:p.Ser4497Thr
ENST00000527303.2:c.10189T>A ENSP00000433982.2:p.Ser3397Thr
ENST00000322810.8:c.13900T>A ENSP00000323856.4:p.Ser4634Thr
ENST00000345136.7:c.13489T>A ENSP00000344848.3:p.Ser4497Thr
ENST00000354589.7:c.13489T>A ENSP00000346602.3:p.Ser4497Thr
ENST00000354958.6:c.13423T>A ENSP00000347044.2:p.Ser4475Thr
ENST00000356346.7:c.13447T>A MANE Plus Clinical ENSP00000348702.3:p.Ser4483Thr
ENST00000357649.6:c.13501T>A ENSP00000350277.2:p.Ser4501Thr
ENST00000398774.6:c.13393T>A ENSP00000381756.2:p.Ser4465Thr
ENST00000436759.6:c.13570T>A ENSP00000388180.2:p.Ser4524Thr
ENST00000527096.5:c.13558T>A ENSP00000434583.1:p.Ser4520Thr
NM_000445.4:c.13570T>A NP_000436.2:p.Ser4524Thr
NM_201378.3:c.13447T>A NP_958780.1:p.Ser4483Thr
NM_201379.2:c.13423T>A NP_958781.1:p.Ser4475Thr
NM_201380.3:c.13900T>A NP_958782.1:p.Ser4634Thr
NM_201381.2:c.13393T>A NP_958783.1:p.Ser4465Thr
NM_201382.3:c.13489T>A NP_958784.1:p.Ser4497Thr
NM_201383.2:c.13501T>A NP_958785.1:p.Ser4501Thr
NM_201384.2:c.13489T>A NP_958786.1:p.Ser4497Thr
XM_005250976.2:c.13915T>A XP_005251033.1:p.Ser4639Thr
XM_005250978.2:c.13516T>A XP_005251035.1:p.Ser4506Thr
XM_005250979.3:c.13504T>A XP_005251036.1:p.Ser4502Thr
XM_005250980.3:c.13504T>A XP_005251037.1:p.Ser4502Thr
XM_005250981.2:c.13462T>A XP_005251038.1:p.Ser4488Thr
XM_005250982.2:c.13438T>A XP_005251039.1:p.Ser4480Thr
XM_005250983.2:c.13420T>A XP_005251040.1:p.Ser4474Thr
XM_005250984.3:c.13408T>A XP_005251041.1:p.Ser4470Thr
XM_006716588.2:c.13585T>A XP_006716651.1:p.Ser4529Thr
XM_006716589.2:c.13435T>A XP_006716652.1:p.Ser4479Thr
XM_006716590.2:c.13435T>A XP_006716653.1:p.Ser4479Thr
XM_011517130.1:c.13504T>A XP_011515432.1:p.Ser4502Thr
XM_011517131.1:c.13420T>A XP_011515433.1:p.Ser4474Thr
XM_011517132.1:c.10135T>A XP_011515434.1:p.Ser3379Thr
XM_005250976.4:c.13915T>A XP_005251033.1:p.Ser4639Thr
XM_005250978.3:c.13516T>A XP_005251035.1:p.Ser4506Thr
XM_005250979.4:c.13504T>A XP_005251036.1:p.Ser4502Thr
XM_005250980.4:c.13504T>A XP_005251037.1:p.Ser4502Thr
XM_005250981.3:c.13462T>A XP_005251038.1:p.Ser4488Thr
XM_005250982.4:c.13438T>A XP_005251039.1:p.Ser4480Thr
XM_005250984.5:c.13408T>A XP_005251041.1:p.Ser4470Thr
XM_006716588.3:c.13585T>A XP_006716651.1:p.Ser4529Thr
XM_006716590.3:c.13435T>A XP_006716653.1:p.Ser4479Thr
XM_011517130.2:c.13504T>A XP_011515432.1:p.Ser4502Thr
XM_011517131.2:c.13420T>A XP_011515433.1:p.Ser4474Thr
XM_011517132.2:c.10135T>A XP_011515434.1:p.Ser3379Thr
NM_000445.5:c.13570T>A NP_000436.2:p.Ser4524Thr
NM_201378.4:c.13447T>A MANE Plus Clinical NP_958780.1:p.Ser4483Thr
NM_201379.3:c.13423T>A NP_958781.1:p.Ser4475Thr
NM_201380.4:c.13900T>A NP_958782.1:p.Ser4634Thr
NM_201381.3:c.13393T>A NP_958783.1:p.Ser4465Thr
NM_201382.4:c.13489T>A NP_958784.1:p.Ser4497Thr
NM_201383.3:c.13501T>A NP_958785.1:p.Ser4501Thr
NM_201384.3:c.13489T>A MANE Select NP_958786.1:p.Ser4497Thr