Canonical Allele Identifier: CA4925410

Gene: PLEC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143921681C>T , CM000670.2:g.143921681C>T	GRCh38
NC_000008.10:g.144995849C>T , CM000670.1:g.144995849C>T	GRCh37
NC_000008.9:g.145067837C>T	NCBI36
NG_012492.1:g.60065G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_201384.3:c.8140G>A MANE Select	NP_958786.1:p.Ala2714Thr
ENST00000345136.8:c.8140G>A MANE Select	ENSP00000344848.3:p.Ala2714Thr
NM_201378.4:c.8098G>A MANE Plus Clinical	NP_958780.1:p.Ala2700Thr
ENST00000356346.7:c.8098G>A MANE Plus Clinical	ENSP00000348702.3:p.Ala2700Thr
NM_000445.4:c.8221G>A	NP_000436.2:p.Ala2741Thr
NM_000445.5:c.8221G>A	NP_000436.2:p.Ala2741Thr
NM_201378.3:c.8098G>A	NP_958780.1:p.Ala2700Thr
NM_201379.2:c.8074G>A	NP_958781.1:p.Ala2692Thr
NM_201379.3:c.8074G>A	NP_958781.1:p.Ala2692Thr
NM_201380.3:c.8551G>A	NP_958782.1:p.Ala2851Thr
NM_201380.4:c.8551G>A	NP_958782.1:p.Ala2851Thr
NM_201381.2:c.8044G>A	NP_958783.1:p.Ala2682Thr
NM_201381.3:c.8044G>A	NP_958783.1:p.Ala2682Thr
NM_201382.3:c.8140G>A	NP_958784.1:p.Ala2714Thr
NM_201382.4:c.8140G>A	NP_958784.1:p.Ala2714Thr
NM_201383.2:c.8152G>A	NP_958785.1:p.Ala2718Thr
NM_201383.3:c.8152G>A	NP_958785.1:p.Ala2718Thr
NM_201384.2:c.8140G>A	NP_958786.1:p.Ala2714Thr
ENST00000322810.8:c.8551G>A	ENSP00000323856.4:p.Ala2851Thr
ENST00000345136.7:c.8140G>A	ENSP00000344848.3:p.Ala2714Thr
ENST00000354589.7:c.8140G>A	ENSP00000346602.3:p.Ala2714Thr
ENST00000354958.6:c.8074G>A	ENSP00000347044.2:p.Ala2692Thr
ENST00000357649.6:c.8152G>A	ENSP00000350277.2:p.Ala2718Thr
ENST00000398774.6:c.8044G>A	ENSP00000381756.2:p.Ala2682Thr
ENST00000436759.6:c.8221G>A	ENSP00000388180.2:p.Ala2741Thr
ENST00000527096.5:c.8209G>A	ENSP00000434583.1:p.Ala2737Thr
ENST00000527303.2:c.4840G>A	ENSP00000433982.2:p.Ala1614Thr
ENST00000528025.6:c.8272G>A	ENSP00000437303.2:p.Ala2758Thr
ENST00000685198.1:c.8191G>A	ENSP00000510528.1:p.Ala2731Thr
ENST00000687971.1:c.7858G>A	ENSP00000510788.1:p.Ala2620Thr
ENST00000693060.1:c.8071G>A	ENSP00000510329.1:p.Ala2691Thr
XM_005250976.2:c.8566G>A	XP_005251033.1:p.Ala2856Thr
XM_005250976.4:c.8566G>A	XP_005251033.1:p.Ala2856Thr
XM_005250978.2:c.8167G>A	XP_005251035.1:p.Ala2723Thr
XM_005250978.3:c.8167G>A	XP_005251035.1:p.Ala2723Thr
XM_005250979.3:c.8155G>A	XP_005251036.1:p.Ala2719Thr
XM_005250979.4:c.8155G>A	XP_005251036.1:p.Ala2719Thr
XM_005250980.3:c.8155G>A	XP_005251037.1:p.Ala2719Thr
XM_005250980.4:c.8155G>A	XP_005251037.1:p.Ala2719Thr
XM_005250981.2:c.8113G>A	XP_005251038.1:p.Ala2705Thr
XM_005250981.3:c.8113G>A	XP_005251038.1:p.Ala2705Thr
XM_005250982.2:c.8089G>A	XP_005251039.1:p.Ala2697Thr
XM_005250982.4:c.8089G>A	XP_005251039.1:p.Ala2697Thr
XM_005250983.2:c.8071G>A	XP_005251040.1:p.Ala2691Thr
XM_005250984.3:c.8059G>A	XP_005251041.1:p.Ala2687Thr
XM_005250984.5:c.8059G>A	XP_005251041.1:p.Ala2687Thr
XM_006716588.2:c.8236G>A	XP_006716651.1:p.Ala2746Thr
XM_006716588.3:c.8236G>A	XP_006716651.1:p.Ala2746Thr
XM_006716589.2:c.8086G>A	XP_006716652.1:p.Ala2696Thr
XM_006716590.2:c.8086G>A	XP_006716653.1:p.Ala2696Thr
XM_006716590.3:c.8086G>A	XP_006716653.1:p.Ala2696Thr
XM_011517130.1:c.8155G>A	XP_011515432.1:p.Ala2719Thr
XM_011517130.2:c.8155G>A	XP_011515432.1:p.Ala2719Thr
XM_011517131.1:c.8071G>A	XP_011515433.1:p.Ala2691Thr
XM_011517131.2:c.8071G>A	XP_011515433.1:p.Ala2691Thr
XM_011517132.1:c.4786G>A	XP_011515434.1:p.Ala1596Thr
XM_011517132.2:c.4786G>A	XP_011515434.1:p.Ala1596Thr