Canonical Allele Identifier: CA4923945
Community Standard Title: NM_201384.3(PLEC):c.12942G>A (p.Ala4314=)
Gene: PLEC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143916879C>T , CM000670.2:g.143916879C>T GRCh38
NC_000008.10:g.144991047C>T , CM000670.1:g.144991047C>T GRCh37
NC_000008.9:g.145063035C>T NCBI36
NG_012492.1:g.64867G>A

Transcript Alleles

HGVS Amino-acid Change
NM_201384.3:c.12942G>A MANE Select NP_958786.1:p.Ala4314=
ENST00000345136.8:c.12942G>A MANE Select ENSP00000344848.3:p.Ala4314=
NM_201378.4:c.12900G>A MANE Plus Clinical NP_958780.1:p.Ala4300=
ENST00000356346.7:c.12900G>A MANE Plus Clinical ENSP00000348702.3:p.Ala4300=
NM_000445.4:c.13023G>A NP_000436.2:p.Ala4341=
NM_000445.5:c.13023G>A NP_000436.2:p.Ala4341=
NM_201378.3:c.12900G>A NP_958780.1:p.Ala4300=
NM_201379.2:c.12876G>A NP_958781.1:p.Ala4292=
NM_201379.3:c.12876G>A NP_958781.1:p.Ala4292=
NM_201380.3:c.13353G>A NP_958782.1:p.Ala4451=
NM_201380.4:c.13353G>A NP_958782.1:p.Ala4451=
NM_201381.2:c.12846G>A NP_958783.1:p.Ala4282=
NM_201381.3:c.12846G>A NP_958783.1:p.Ala4282=
NM_201382.3:c.12942G>A NP_958784.1:p.Ala4314=
NM_201382.4:c.12942G>A NP_958784.1:p.Ala4314=
NM_201383.2:c.12954G>A NP_958785.1:p.Ala4318=
NM_201383.3:c.12954G>A NP_958785.1:p.Ala4318=
NM_201384.2:c.12942G>A NP_958786.1:p.Ala4314=
ENST00000322810.8:c.13353G>A ENSP00000323856.4:p.Ala4451=
ENST00000345136.7:c.12942G>A ENSP00000344848.3:p.Ala4314=
ENST00000354589.7:c.12942G>A ENSP00000346602.3:p.Ala4314=
ENST00000354958.6:c.12876G>A ENSP00000347044.2:p.Ala4292=
ENST00000357649.6:c.12954G>A ENSP00000350277.2:p.Ala4318=
ENST00000398774.6:c.12846G>A ENSP00000381756.2:p.Ala4282=
ENST00000436759.6:c.13023G>A ENSP00000388180.2:p.Ala4341=
ENST00000527096.5:c.13011G>A ENSP00000434583.1:p.Ala4337=
ENST00000527303.2:c.9642G>A ENSP00000433982.2:p.Ala3214=
ENST00000528025.6:c.13074G>A ENSP00000437303.2:p.Ala4358=
ENST00000685198.1:c.12993G>A ENSP00000510528.1:p.Ala4331=
ENST00000687971.1:c.12660G>A ENSP00000510788.1:p.Ala4220=
ENST00000693060.1:c.12873G>A ENSP00000510329.1:p.Ala4291=
XM_005250976.2:c.13368G>A XP_005251033.1:p.Ala4456=
XM_005250976.4:c.13368G>A XP_005251033.1:p.Ala4456=
XM_005250978.2:c.12969G>A XP_005251035.1:p.Ala4323=
XM_005250978.3:c.12969G>A XP_005251035.1:p.Ala4323=
XM_005250979.3:c.12957G>A XP_005251036.1:p.Ala4319=
XM_005250979.4:c.12957G>A XP_005251036.1:p.Ala4319=
XM_005250980.3:c.12957G>A XP_005251037.1:p.Ala4319=
XM_005250980.4:c.12957G>A XP_005251037.1:p.Ala4319=
XM_005250981.2:c.12915G>A XP_005251038.1:p.Ala4305=
XM_005250981.3:c.12915G>A XP_005251038.1:p.Ala4305=
XM_005250982.2:c.12891G>A XP_005251039.1:p.Ala4297=
XM_005250982.4:c.12891G>A XP_005251039.1:p.Ala4297=
XM_005250983.2:c.12873G>A XP_005251040.1:p.Ala4291=
XM_005250984.3:c.12861G>A XP_005251041.1:p.Ala4287=
XM_005250984.5:c.12861G>A XP_005251041.1:p.Ala4287=
XM_006716588.2:c.13038G>A XP_006716651.1:p.Ala4346=
XM_006716588.3:c.13038G>A XP_006716651.1:p.Ala4346=
XM_006716589.2:c.12888G>A XP_006716652.1:p.Ala4296=
XM_006716590.2:c.12888G>A XP_006716653.1:p.Ala4296=
XM_006716590.3:c.12888G>A XP_006716653.1:p.Ala4296=
XM_011517130.1:c.12957G>A XP_011515432.1:p.Ala4319=
XM_011517130.2:c.12957G>A XP_011515432.1:p.Ala4319=
XM_011517131.1:c.12873G>A XP_011515433.1:p.Ala4291=
XM_011517131.2:c.12873G>A XP_011515433.1:p.Ala4291=
XM_011517132.1:c.9588G>A XP_011515434.1:p.Ala3196=
XM_011517132.2:c.9588G>A XP_011515434.1:p.Ala3196=