Canonical Allele Identifier: CA4924919
Community Standard Title: NM_201384.3(PLEC):c.9593G>A (p.Arg3198Gln)
Gene: PLEC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143920228C>T , CM000670.2:g.143920228C>T GRCh38
NC_000008.10:g.144994396C>T , CM000670.1:g.144994396C>T GRCh37
NC_000008.9:g.145066384C>T NCBI36
NG_012492.1:g.61518G>A

Transcript Alleles

HGVS Amino-acid Change
NM_201384.3:c.9593G>A MANE Select NP_958786.1:p.Arg3198Gln
ENST00000345136.8:c.9593G>A MANE Select ENSP00000344848.3:p.Arg3198Gln
NM_201378.4:c.9551G>A MANE Plus Clinical NP_958780.1:p.Arg3184Gln
ENST00000356346.7:c.9551G>A MANE Plus Clinical ENSP00000348702.3:p.Arg3184Gln
NM_000445.4:c.9674G>A NP_000436.2:p.Arg3225Gln
NM_000445.5:c.9674G>A NP_000436.2:p.Arg3225Gln
NM_201378.3:c.9551G>A NP_958780.1:p.Arg3184Gln
NM_201379.2:c.9527G>A NP_958781.1:p.Arg3176Gln
NM_201379.3:c.9527G>A NP_958781.1:p.Arg3176Gln
NM_201380.3:c.10004G>A NP_958782.1:p.Arg3335Gln
NM_201380.4:c.10004G>A NP_958782.1:p.Arg3335Gln
NM_201381.2:c.9497G>A NP_958783.1:p.Arg3166Gln
NM_201381.3:c.9497G>A NP_958783.1:p.Arg3166Gln
NM_201382.3:c.9593G>A NP_958784.1:p.Arg3198Gln
NM_201382.4:c.9593G>A NP_958784.1:p.Arg3198Gln
NM_201383.2:c.9605G>A NP_958785.1:p.Arg3202Gln
NM_201383.3:c.9605G>A NP_958785.1:p.Arg3202Gln
NM_201384.2:c.9593G>A NP_958786.1:p.Arg3198Gln
ENST00000322810.8:c.10004G>A ENSP00000323856.4:p.Arg3335Gln
ENST00000345136.7:c.9593G>A ENSP00000344848.3:p.Arg3198Gln
ENST00000354589.7:c.9593G>A ENSP00000346602.3:p.Arg3198Gln
ENST00000354958.6:c.9527G>A ENSP00000347044.2:p.Arg3176Gln
ENST00000357649.6:c.9605G>A ENSP00000350277.2:p.Arg3202Gln
ENST00000398774.6:c.9497G>A ENSP00000381756.2:p.Arg3166Gln
ENST00000436759.6:c.9674G>A ENSP00000388180.2:p.Arg3225Gln
ENST00000527096.5:c.9662G>A ENSP00000434583.1:p.Arg3221Gln
ENST00000527303.2:c.6293G>A ENSP00000433982.2:p.Arg2098Gln
ENST00000528025.6:c.9725G>A ENSP00000437303.2:p.Arg3242Gln
ENST00000685198.1:c.9644G>A ENSP00000510528.1:p.Arg3215Gln
ENST00000687971.1:c.9311G>A ENSP00000510788.1:p.Arg3104Gln
ENST00000693060.1:c.9524G>A ENSP00000510329.1:p.Arg3175Gln
XM_005250976.2:c.10019G>A XP_005251033.1:p.Arg3340Gln
XM_005250976.4:c.10019G>A XP_005251033.1:p.Arg3340Gln
XM_005250978.2:c.9620G>A XP_005251035.1:p.Arg3207Gln
XM_005250978.3:c.9620G>A XP_005251035.1:p.Arg3207Gln
XM_005250979.3:c.9608G>A XP_005251036.1:p.Arg3203Gln
XM_005250979.4:c.9608G>A XP_005251036.1:p.Arg3203Gln
XM_005250980.3:c.9608G>A XP_005251037.1:p.Arg3203Gln
XM_005250980.4:c.9608G>A XP_005251037.1:p.Arg3203Gln
XM_005250981.2:c.9566G>A XP_005251038.1:p.Arg3189Gln
XM_005250981.3:c.9566G>A XP_005251038.1:p.Arg3189Gln
XM_005250982.2:c.9542G>A XP_005251039.1:p.Arg3181Gln
XM_005250982.4:c.9542G>A XP_005251039.1:p.Arg3181Gln
XM_005250983.2:c.9524G>A XP_005251040.1:p.Arg3175Gln
XM_005250984.3:c.9512G>A XP_005251041.1:p.Arg3171Gln
XM_005250984.5:c.9512G>A XP_005251041.1:p.Arg3171Gln
XM_006716588.2:c.9689G>A XP_006716651.1:p.Arg3230Gln
XM_006716588.3:c.9689G>A XP_006716651.1:p.Arg3230Gln
XM_006716589.2:c.9539G>A XP_006716652.1:p.Arg3180Gln
XM_006716590.2:c.9539G>A XP_006716653.1:p.Arg3180Gln
XM_006716590.3:c.9539G>A XP_006716653.1:p.Arg3180Gln
XM_011517130.1:c.9608G>A XP_011515432.1:p.Arg3203Gln
XM_011517130.2:c.9608G>A XP_011515432.1:p.Arg3203Gln
XM_011517131.1:c.9524G>A XP_011515433.1:p.Arg3175Gln
XM_011517131.2:c.9524G>A XP_011515433.1:p.Arg3175Gln
XM_011517132.1:c.6239G>A XP_011515434.1:p.Arg2080Gln
XM_011517132.2:c.6239G>A XP_011515434.1:p.Arg2080Gln