Canonical Allele Identifier: CA4924992
Community Standard Title: NM_201384.3(PLEC):c.9363G>A (p.Lys3121=)
Gene: PLEC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143920458C>T , CM000670.2:g.143920458C>T GRCh38
NC_000008.10:g.144994626C>T , CM000670.1:g.144994626C>T GRCh37
NC_000008.9:g.145066614C>T NCBI36
NG_012492.1:g.61288G>A

Transcript Alleles

HGVS Amino-acid Change
NM_201384.3:c.9363G>A MANE Select NP_958786.1:p.Lys3121=
ENST00000345136.8:c.9363G>A MANE Select ENSP00000344848.3:p.Lys3121=
NM_201378.4:c.9321G>A MANE Plus Clinical NP_958780.1:p.Lys3107=
ENST00000356346.7:c.9321G>A MANE Plus Clinical ENSP00000348702.3:p.Lys3107=
NM_000445.4:c.9444G>A NP_000436.2:p.Lys3148=
NM_000445.5:c.9444G>A NP_000436.2:p.Lys3148=
NM_201378.3:c.9321G>A NP_958780.1:p.Lys3107=
NM_201379.2:c.9297G>A NP_958781.1:p.Lys3099=
NM_201379.3:c.9297G>A NP_958781.1:p.Lys3099=
NM_201380.3:c.9774G>A NP_958782.1:p.Lys3258=
NM_201380.4:c.9774G>A NP_958782.1:p.Lys3258=
NM_201381.2:c.9267G>A NP_958783.1:p.Lys3089=
NM_201381.3:c.9267G>A NP_958783.1:p.Lys3089=
NM_201382.3:c.9363G>A NP_958784.1:p.Lys3121=
NM_201382.4:c.9363G>A NP_958784.1:p.Lys3121=
NM_201383.2:c.9375G>A NP_958785.1:p.Lys3125=
NM_201383.3:c.9375G>A NP_958785.1:p.Lys3125=
NM_201384.2:c.9363G>A NP_958786.1:p.Lys3121=
ENST00000322810.8:c.9774G>A ENSP00000323856.4:p.Lys3258=
ENST00000345136.7:c.9363G>A ENSP00000344848.3:p.Lys3121=
ENST00000354589.7:c.9363G>A ENSP00000346602.3:p.Lys3121=
ENST00000354958.6:c.9297G>A ENSP00000347044.2:p.Lys3099=
ENST00000357649.6:c.9375G>A ENSP00000350277.2:p.Lys3125=
ENST00000398774.6:c.9267G>A ENSP00000381756.2:p.Lys3089=
ENST00000436759.6:c.9444G>A ENSP00000388180.2:p.Lys3148=
ENST00000527096.5:c.9432G>A ENSP00000434583.1:p.Lys3144=
ENST00000527303.2:c.6063G>A ENSP00000433982.2:p.Lys2021=
ENST00000528025.6:c.9495G>A ENSP00000437303.2:p.Lys3165=
ENST00000685198.1:c.9414G>A ENSP00000510528.1:p.Lys3138=
ENST00000687971.1:c.9081G>A ENSP00000510788.1:p.Lys3027=
ENST00000693060.1:c.9294G>A ENSP00000510329.1:p.Lys3098=
XM_005250976.2:c.9789G>A XP_005251033.1:p.Lys3263=
XM_005250976.4:c.9789G>A XP_005251033.1:p.Lys3263=
XM_005250978.2:c.9390G>A XP_005251035.1:p.Lys3130=
XM_005250978.3:c.9390G>A XP_005251035.1:p.Lys3130=
XM_005250979.3:c.9378G>A XP_005251036.1:p.Lys3126=
XM_005250979.4:c.9378G>A XP_005251036.1:p.Lys3126=
XM_005250980.3:c.9378G>A XP_005251037.1:p.Lys3126=
XM_005250980.4:c.9378G>A XP_005251037.1:p.Lys3126=
XM_005250981.2:c.9336G>A XP_005251038.1:p.Lys3112=
XM_005250981.3:c.9336G>A XP_005251038.1:p.Lys3112=
XM_005250982.2:c.9312G>A XP_005251039.1:p.Lys3104=
XM_005250982.4:c.9312G>A XP_005251039.1:p.Lys3104=
XM_005250983.2:c.9294G>A XP_005251040.1:p.Lys3098=
XM_005250984.3:c.9282G>A XP_005251041.1:p.Lys3094=
XM_005250984.5:c.9282G>A XP_005251041.1:p.Lys3094=
XM_006716588.2:c.9459G>A XP_006716651.1:p.Lys3153=
XM_006716588.3:c.9459G>A XP_006716651.1:p.Lys3153=
XM_006716589.2:c.9309G>A XP_006716652.1:p.Lys3103=
XM_006716590.2:c.9309G>A XP_006716653.1:p.Lys3103=
XM_006716590.3:c.9309G>A XP_006716653.1:p.Lys3103=
XM_011517130.1:c.9378G>A XP_011515432.1:p.Lys3126=
XM_011517130.2:c.9378G>A XP_011515432.1:p.Lys3126=
XM_011517131.1:c.9294G>A XP_011515433.1:p.Lys3098=
XM_011517131.2:c.9294G>A XP_011515433.1:p.Lys3098=
XM_011517132.1:c.6009G>A XP_011515434.1:p.Lys2003=
XM_011517132.2:c.6009G>A XP_011515434.1:p.Lys2003=