Canonical Allele Identifier: CA4923836
Gene: PLEC HGNC NCBI

Linked Data

dbSNP Id: rs781912450

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143916476C>T , CM000670.2:g.143916476C>T GRCh38
NC_000008.10:g.144990644C>T , CM000670.1:g.144990644C>T GRCh37
NC_000008.9:g.145062632C>T NCBI36
NG_012492.1:g.65270G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000528025.6:c.13477G>A ENSP00000437303.2:p.Ala4493Thr
ENST00000685198.1:c.13396G>A ENSP00000510528.1:p.Ala4466Thr
ENST00000687971.1:c.13063G>A ENSP00000510788.1:p.Ala4355Thr
ENST00000693060.1:c.13276G>A ENSP00000510329.1:p.Ala4426Thr
ENST00000345136.8:c.13345G>A MANE Select ENSP00000344848.3:p.Ala4449Thr
ENST00000527303.2:c.10045G>A ENSP00000433982.2:p.Ala3349Thr
ENST00000322810.8:c.13756G>A ENSP00000323856.4:p.Ala4586Thr
ENST00000345136.7:c.13345G>A ENSP00000344848.3:p.Ala4449Thr
ENST00000354589.7:c.13345G>A ENSP00000346602.3:p.Ala4449Thr
ENST00000354958.6:c.13279G>A ENSP00000347044.2:p.Ala4427Thr
ENST00000356346.7:c.13303G>A MANE Plus Clinical ENSP00000348702.3:p.Ala4435Thr
ENST00000357649.6:c.13357G>A ENSP00000350277.2:p.Ala4453Thr
ENST00000398774.6:c.13249G>A ENSP00000381756.2:p.Ala4417Thr
ENST00000436759.6:c.13426G>A ENSP00000388180.2:p.Ala4476Thr
ENST00000527096.5:c.13414G>A ENSP00000434583.1:p.Ala4472Thr
NM_000445.4:c.13426G>A NP_000436.2:p.Ala4476Thr
NM_201378.3:c.13303G>A NP_958780.1:p.Ala4435Thr
NM_201379.2:c.13279G>A NP_958781.1:p.Ala4427Thr
NM_201380.3:c.13756G>A NP_958782.1:p.Ala4586Thr
NM_201381.2:c.13249G>A NP_958783.1:p.Ala4417Thr
NM_201382.3:c.13345G>A NP_958784.1:p.Ala4449Thr
NM_201383.2:c.13357G>A NP_958785.1:p.Ala4453Thr
NM_201384.2:c.13345G>A NP_958786.1:p.Ala4449Thr
XM_005250976.2:c.13771G>A XP_005251033.1:p.Ala4591Thr
XM_005250978.2:c.13372G>A XP_005251035.1:p.Ala4458Thr
XM_005250979.3:c.13360G>A XP_005251036.1:p.Ala4454Thr
XM_005250980.3:c.13360G>A XP_005251037.1:p.Ala4454Thr
XM_005250981.2:c.13318G>A XP_005251038.1:p.Ala4440Thr
XM_005250982.2:c.13294G>A XP_005251039.1:p.Ala4432Thr
XM_005250983.2:c.13276G>A XP_005251040.1:p.Ala4426Thr
XM_005250984.3:c.13264G>A XP_005251041.1:p.Ala4422Thr
XM_006716588.2:c.13441G>A XP_006716651.1:p.Ala4481Thr
XM_006716589.2:c.13291G>A XP_006716652.1:p.Ala4431Thr
XM_006716590.2:c.13291G>A XP_006716653.1:p.Ala4431Thr
XM_011517130.1:c.13360G>A XP_011515432.1:p.Ala4454Thr
XM_011517131.1:c.13276G>A XP_011515433.1:p.Ala4426Thr
XM_011517132.1:c.9991G>A XP_011515434.1:p.Ala3331Thr
XM_005250976.4:c.13771G>A XP_005251033.1:p.Ala4591Thr
XM_005250978.3:c.13372G>A XP_005251035.1:p.Ala4458Thr
XM_005250979.4:c.13360G>A XP_005251036.1:p.Ala4454Thr
XM_005250980.4:c.13360G>A XP_005251037.1:p.Ala4454Thr
XM_005250981.3:c.13318G>A XP_005251038.1:p.Ala4440Thr
XM_005250982.4:c.13294G>A XP_005251039.1:p.Ala4432Thr
XM_005250984.5:c.13264G>A XP_005251041.1:p.Ala4422Thr
XM_006716588.3:c.13441G>A XP_006716651.1:p.Ala4481Thr
XM_006716590.3:c.13291G>A XP_006716653.1:p.Ala4431Thr
XM_011517130.2:c.13360G>A XP_011515432.1:p.Ala4454Thr
XM_011517131.2:c.13276G>A XP_011515433.1:p.Ala4426Thr
XM_011517132.2:c.9991G>A XP_011515434.1:p.Ala3331Thr
NM_000445.5:c.13426G>A NP_000436.2:p.Ala4476Thr
NM_201378.4:c.13303G>A MANE Plus Clinical NP_958780.1:p.Ala4435Thr
NM_201379.3:c.13279G>A NP_958781.1:p.Ala4427Thr
NM_201380.4:c.13756G>A NP_958782.1:p.Ala4586Thr
NM_201381.3:c.13249G>A NP_958783.1:p.Ala4417Thr
NM_201382.4:c.13345G>A NP_958784.1:p.Ala4449Thr
NM_201383.3:c.13357G>A NP_958785.1:p.Ala4453Thr
NM_201384.3:c.13345G>A MANE Select NP_958786.1:p.Ala4449Thr