Canonical Allele Identifier: CA372474460
Gene: PLEC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143916385C>G , CM000670.2:g.143916385C>G GRCh38
NC_000008.10:g.144990553C>G , CM000670.1:g.144990553C>G GRCh37
NC_000008.9:g.145062541C>G NCBI36
NG_012492.1:g.65361G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000528025.6:c.13568G>C ENSP00000437303.2:p.Ser4523Thr
ENST00000685198.1:c.13487G>C ENSP00000510528.1:p.Ser4496Thr
ENST00000687971.1:c.13154G>C ENSP00000510788.1:p.Ser4385Thr
ENST00000693060.1:c.13367G>C ENSP00000510329.1:p.Ser4456Thr
ENST00000345136.8:c.13436G>C MANE Select ENSP00000344848.3:p.Ser4479Thr
ENST00000527303.2:c.10136G>C ENSP00000433982.2:p.Ser3379Thr
ENST00000322810.8:c.13847G>C ENSP00000323856.4:p.Ser4616Thr
ENST00000345136.7:c.13436G>C ENSP00000344848.3:p.Ser4479Thr
ENST00000354589.7:c.13436G>C ENSP00000346602.3:p.Ser4479Thr
ENST00000354958.6:c.13370G>C ENSP00000347044.2:p.Ser4457Thr
ENST00000356346.7:c.13394G>C MANE Plus Clinical ENSP00000348702.3:p.Ser4465Thr
ENST00000357649.6:c.13448G>C ENSP00000350277.2:p.Ser4483Thr
ENST00000398774.6:c.13340G>C ENSP00000381756.2:p.Ser4447Thr
ENST00000436759.6:c.13517G>C ENSP00000388180.2:p.Ser4506Thr
ENST00000527096.5:c.13505G>C ENSP00000434583.1:p.Ser4502Thr
NM_000445.4:c.13517G>C NP_000436.2:p.Ser4506Thr
NM_201378.3:c.13394G>C NP_958780.1:p.Ser4465Thr
NM_201379.2:c.13370G>C NP_958781.1:p.Ser4457Thr
NM_201380.3:c.13847G>C NP_958782.1:p.Ser4616Thr
NM_201381.2:c.13340G>C NP_958783.1:p.Ser4447Thr
NM_201382.3:c.13436G>C NP_958784.1:p.Ser4479Thr
NM_201383.2:c.13448G>C NP_958785.1:p.Ser4483Thr
NM_201384.2:c.13436G>C NP_958786.1:p.Ser4479Thr
XM_005250976.2:c.13862G>C XP_005251033.1:p.Ser4621Thr
XM_005250978.2:c.13463G>C XP_005251035.1:p.Ser4488Thr
XM_005250979.3:c.13451G>C XP_005251036.1:p.Ser4484Thr
XM_005250980.3:c.13451G>C XP_005251037.1:p.Ser4484Thr
XM_005250981.2:c.13409G>C XP_005251038.1:p.Ser4470Thr
XM_005250982.2:c.13385G>C XP_005251039.1:p.Ser4462Thr
XM_005250983.2:c.13367G>C XP_005251040.1:p.Ser4456Thr
XM_005250984.3:c.13355G>C XP_005251041.1:p.Ser4452Thr
XM_006716588.2:c.13532G>C XP_006716651.1:p.Ser4511Thr
XM_006716589.2:c.13382G>C XP_006716652.1:p.Ser4461Thr
XM_006716590.2:c.13382G>C XP_006716653.1:p.Ser4461Thr
XM_011517130.1:c.13451G>C XP_011515432.1:p.Ser4484Thr
XM_011517131.1:c.13367G>C XP_011515433.1:p.Ser4456Thr
XM_011517132.1:c.10082G>C XP_011515434.1:p.Ser3361Thr
XM_005250976.4:c.13862G>C XP_005251033.1:p.Ser4621Thr
XM_005250978.3:c.13463G>C XP_005251035.1:p.Ser4488Thr
XM_005250979.4:c.13451G>C XP_005251036.1:p.Ser4484Thr
XM_005250980.4:c.13451G>C XP_005251037.1:p.Ser4484Thr
XM_005250981.3:c.13409G>C XP_005251038.1:p.Ser4470Thr
XM_005250982.4:c.13385G>C XP_005251039.1:p.Ser4462Thr
XM_005250984.5:c.13355G>C XP_005251041.1:p.Ser4452Thr
XM_006716588.3:c.13532G>C XP_006716651.1:p.Ser4511Thr
XM_006716590.3:c.13382G>C XP_006716653.1:p.Ser4461Thr
XM_011517130.2:c.13451G>C XP_011515432.1:p.Ser4484Thr
XM_011517131.2:c.13367G>C XP_011515433.1:p.Ser4456Thr
XM_011517132.2:c.10082G>C XP_011515434.1:p.Ser3361Thr
NM_000445.5:c.13517G>C NP_000436.2:p.Ser4506Thr
NM_201378.4:c.13394G>C MANE Plus Clinical NP_958780.1:p.Ser4465Thr
NM_201379.3:c.13370G>C NP_958781.1:p.Ser4457Thr
NM_201380.4:c.13847G>C NP_958782.1:p.Ser4616Thr
NM_201381.3:c.13340G>C NP_958783.1:p.Ser4447Thr
NM_201382.4:c.13436G>C NP_958784.1:p.Ser4479Thr
NM_201383.3:c.13448G>C NP_958785.1:p.Ser4483Thr
NM_201384.3:c.13436G>C MANE Select NP_958786.1:p.Ser4479Thr