Canonical Allele Identifier: CA372573758
Gene: PLEC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143930170G>T , CM000670.2:g.143930170G>T GRCh38
NC_000008.10:g.145004338G>T , CM000670.1:g.145004338G>T GRCh37
NC_000008.9:g.145076326G>T NCBI36
NG_012492.1:g.51576C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000528025.6:c.2718C>A ENSP00000437303.2:p.Asn906Lys
ENST00000685198.1:c.2637C>A ENSP00000510528.1:p.Asn879Lys
ENST00000687971.1:c.2304C>A ENSP00000510788.1:p.Asn768Lys
ENST00000693060.1:c.2517C>A ENSP00000510329.1:p.Asn839Lys
ENST00000345136.8:c.2586C>A MANE Select ENSP00000344848.3:p.Asn862Lys
ENST00000527303.2:c.2667C>A ENSP00000433982.2:p.Asn889Lys
ENST00000322810.8:c.2997C>A ENSP00000323856.4:p.Asn999Lys
ENST00000345136.7:c.2586C>A ENSP00000344848.3:p.Asn862Lys
ENST00000354589.7:c.2586C>A ENSP00000346602.3:p.Asn862Lys
ENST00000354958.6:c.2520C>A ENSP00000347044.2:p.Asn840Lys
ENST00000356346.7:c.2544C>A MANE Plus Clinical ENSP00000348702.3:p.Asn848Lys
ENST00000357649.6:c.2598C>A ENSP00000350277.2:p.Asn866Lys
ENST00000398774.6:c.2490C>A ENSP00000381756.2:p.Asn830Lys
ENST00000436759.6:c.2667C>A ENSP00000388180.2:p.Asn889Lys
ENST00000527096.5:c.2655C>A ENSP00000434583.1:p.Asn885Lys
NM_000445.4:c.2667C>A NP_000436.2:p.Asn889Lys
NM_201378.3:c.2544C>A NP_958780.1:p.Asn848Lys
NM_201379.2:c.2520C>A NP_958781.1:p.Asn840Lys
NM_201380.3:c.2997C>A NP_958782.1:p.Asn999Lys
NM_201381.2:c.2490C>A NP_958783.1:p.Asn830Lys
NM_201382.3:c.2586C>A NP_958784.1:p.Asn862Lys
NM_201383.2:c.2598C>A NP_958785.1:p.Asn866Lys
NM_201384.2:c.2586C>A NP_958786.1:p.Asn862Lys
XM_005250976.2:c.3012C>A XP_005251033.1:p.Asn1004Lys
XM_005250978.2:c.2613C>A XP_005251035.1:p.Asn871Lys
XM_005250979.3:c.2601C>A XP_005251036.1:p.Asn867Lys
XM_005250980.3:c.2601C>A XP_005251037.1:p.Asn867Lys
XM_005250981.2:c.2559C>A XP_005251038.1:p.Asn853Lys
XM_005250982.2:c.2535C>A XP_005251039.1:p.Asn845Lys
XM_005250983.2:c.2517C>A XP_005251040.1:p.Asn839Lys
XM_005250984.3:c.2505C>A XP_005251041.1:p.Asn835Lys
XM_006716588.2:c.2682C>A XP_006716651.1:p.Asn894Lys
XM_006716589.2:c.2532C>A XP_006716652.1:p.Asn844Lys
XM_006716590.2:c.2532C>A XP_006716653.1:p.Asn844Lys
XM_011517130.1:c.2601C>A XP_011515432.1:p.Asn867Lys
XM_011517131.1:c.2517C>A XP_011515433.1:p.Asn839Lys
XM_011517132.1:c.2613C>A XP_011515434.1:p.Asn871Lys
XM_005250976.4:c.3012C>A XP_005251033.1:p.Asn1004Lys
XM_005250978.3:c.2613C>A XP_005251035.1:p.Asn871Lys
XM_005250979.4:c.2601C>A XP_005251036.1:p.Asn867Lys
XM_005250980.4:c.2601C>A XP_005251037.1:p.Asn867Lys
XM_005250981.3:c.2559C>A XP_005251038.1:p.Asn853Lys
XM_005250982.4:c.2535C>A XP_005251039.1:p.Asn845Lys
XM_005250984.5:c.2505C>A XP_005251041.1:p.Asn835Lys
XM_006716588.3:c.2682C>A XP_006716651.1:p.Asn894Lys
XM_006716590.3:c.2532C>A XP_006716653.1:p.Asn844Lys
XM_011517130.2:c.2601C>A XP_011515432.1:p.Asn867Lys
XM_011517131.2:c.2517C>A XP_011515433.1:p.Asn839Lys
XM_011517132.2:c.2613C>A XP_011515434.1:p.Asn871Lys
NM_000445.5:c.2667C>A NP_000436.2:p.Asn889Lys
NM_201378.4:c.2544C>A MANE Plus Clinical NP_958780.1:p.Asn848Lys
NM_201379.3:c.2520C>A NP_958781.1:p.Asn840Lys
NM_201380.4:c.2997C>A NP_958782.1:p.Asn999Lys
NM_201381.3:c.2490C>A NP_958783.1:p.Asn830Lys
NM_201382.4:c.2586C>A NP_958784.1:p.Asn862Lys
NM_201383.3:c.2598C>A NP_958785.1:p.Asn866Lys
NM_201384.3:c.2586C>A MANE Select NP_958786.1:p.Asn862Lys