Canonical Allele Identifier: CA4924789
Community Standard Title: NM_201384.3(PLEC):c.10011G>A (p.Thr3337=)
Gene: PLEC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143919810C>T , CM000670.2:g.143919810C>T GRCh38
NC_000008.10:g.144993978C>T , CM000670.1:g.144993978C>T GRCh37
NC_000008.9:g.145065966C>T NCBI36
NG_012492.1:g.61936G>A

Transcript Alleles

HGVS Amino-acid Change
NM_201384.3:c.10011G>A MANE Select NP_958786.1:p.Thr3337=
ENST00000345136.8:c.10011G>A MANE Select ENSP00000344848.3:p.Thr3337=
NM_201378.4:c.9969G>A MANE Plus Clinical NP_958780.1:p.Thr3323=
ENST00000356346.7:c.9969G>A MANE Plus Clinical ENSP00000348702.3:p.Thr3323=
NM_000445.4:c.10092G>A NP_000436.2:p.Thr3364=
NM_000445.5:c.10092G>A NP_000436.2:p.Thr3364=
NM_201378.3:c.9969G>A NP_958780.1:p.Thr3323=
NM_201379.2:c.9945G>A NP_958781.1:p.Thr3315=
NM_201379.3:c.9945G>A NP_958781.1:p.Thr3315=
NM_201380.3:c.10422G>A NP_958782.1:p.Thr3474=
NM_201380.4:c.10422G>A NP_958782.1:p.Thr3474=
NM_201381.2:c.9915G>A NP_958783.1:p.Thr3305=
NM_201381.3:c.9915G>A NP_958783.1:p.Thr3305=
NM_201382.3:c.10011G>A NP_958784.1:p.Thr3337=
NM_201382.4:c.10011G>A NP_958784.1:p.Thr3337=
NM_201383.2:c.10023G>A NP_958785.1:p.Thr3341=
NM_201383.3:c.10023G>A NP_958785.1:p.Thr3341=
NM_201384.2:c.10011G>A NP_958786.1:p.Thr3337=
ENST00000322810.8:c.10422G>A ENSP00000323856.4:p.Thr3474=
ENST00000345136.7:c.10011G>A ENSP00000344848.3:p.Thr3337=
ENST00000354589.7:c.10011G>A ENSP00000346602.3:p.Thr3337=
ENST00000354958.6:c.9945G>A ENSP00000347044.2:p.Thr3315=
ENST00000357649.6:c.10023G>A ENSP00000350277.2:p.Thr3341=
ENST00000398774.6:c.9915G>A ENSP00000381756.2:p.Thr3305=
ENST00000436759.6:c.10092G>A ENSP00000388180.2:p.Thr3364=
ENST00000527096.5:c.10080G>A ENSP00000434583.1:p.Thr3360=
ENST00000527303.2:c.6711G>A ENSP00000433982.2:p.Thr2237=
ENST00000528025.6:c.10143G>A ENSP00000437303.2:p.Thr3381=
ENST00000685198.1:c.10062G>A ENSP00000510528.1:p.Thr3354=
ENST00000687971.1:c.9729G>A ENSP00000510788.1:p.Thr3243=
ENST00000693060.1:c.9942G>A ENSP00000510329.1:p.Thr3314=
XM_005250976.2:c.10437G>A XP_005251033.1:p.Thr3479=
XM_005250976.4:c.10437G>A XP_005251033.1:p.Thr3479=
XM_005250978.2:c.10038G>A XP_005251035.1:p.Thr3346=
XM_005250978.3:c.10038G>A XP_005251035.1:p.Thr3346=
XM_005250979.3:c.10026G>A XP_005251036.1:p.Thr3342=
XM_005250979.4:c.10026G>A XP_005251036.1:p.Thr3342=
XM_005250980.3:c.10026G>A XP_005251037.1:p.Thr3342=
XM_005250980.4:c.10026G>A XP_005251037.1:p.Thr3342=
XM_005250981.2:c.9984G>A XP_005251038.1:p.Thr3328=
XM_005250981.3:c.9984G>A XP_005251038.1:p.Thr3328=
XM_005250982.2:c.9960G>A XP_005251039.1:p.Thr3320=
XM_005250982.4:c.9960G>A XP_005251039.1:p.Thr3320=
XM_005250983.2:c.9942G>A XP_005251040.1:p.Thr3314=
XM_005250984.3:c.9930G>A XP_005251041.1:p.Thr3310=
XM_005250984.5:c.9930G>A XP_005251041.1:p.Thr3310=
XM_006716588.2:c.10107G>A XP_006716651.1:p.Thr3369=
XM_006716588.3:c.10107G>A XP_006716651.1:p.Thr3369=
XM_006716589.2:c.9957G>A XP_006716652.1:p.Thr3319=
XM_006716590.2:c.9957G>A XP_006716653.1:p.Thr3319=
XM_006716590.3:c.9957G>A XP_006716653.1:p.Thr3319=
XM_011517130.1:c.10026G>A XP_011515432.1:p.Thr3342=
XM_011517130.2:c.10026G>A XP_011515432.1:p.Thr3342=
XM_011517131.1:c.9942G>A XP_011515433.1:p.Thr3314=
XM_011517131.2:c.9942G>A XP_011515433.1:p.Thr3314=
XM_011517132.1:c.6657G>A XP_011515434.1:p.Thr2219=
XM_011517132.2:c.6657G>A XP_011515434.1:p.Thr2219=