Canonical Allele Identifier: CA372477589

Gene: PLEC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916844G>T , CM000670.2:g.143916844G>T	GRCh38
NC_000008.10:g.144991012G>T , CM000670.1:g.144991012G>T	GRCh37
NC_000008.9:g.145063000G>T	NCBI36
NG_012492.1:g.64902C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_201384.3:c.12977C>A MANE Select	NP_958786.1:p.Thr4326Asn
ENST00000345136.8:c.12977C>A MANE Select	ENSP00000344848.3:p.Thr4326Asn
NM_201378.4:c.12935C>A MANE Plus Clinical	NP_958780.1:p.Thr4312Asn
ENST00000356346.7:c.12935C>A MANE Plus Clinical	ENSP00000348702.3:p.Thr4312Asn
NM_000445.4:c.13058C>A	NP_000436.2:p.Thr4353Asn
NM_000445.5:c.13058C>A	NP_000436.2:p.Thr4353Asn
NM_201378.3:c.12935C>A	NP_958780.1:p.Thr4312Asn
NM_201379.2:c.12911C>A	NP_958781.1:p.Thr4304Asn
NM_201379.3:c.12911C>A	NP_958781.1:p.Thr4304Asn
NM_201380.3:c.13388C>A	NP_958782.1:p.Thr4463Asn
NM_201380.4:c.13388C>A	NP_958782.1:p.Thr4463Asn
NM_201381.2:c.12881C>A	NP_958783.1:p.Thr4294Asn
NM_201381.3:c.12881C>A	NP_958783.1:p.Thr4294Asn
NM_201382.3:c.12977C>A	NP_958784.1:p.Thr4326Asn
NM_201382.4:c.12977C>A	NP_958784.1:p.Thr4326Asn
NM_201383.2:c.12989C>A	NP_958785.1:p.Thr4330Asn
NM_201383.3:c.12989C>A	NP_958785.1:p.Thr4330Asn
NM_201384.2:c.12977C>A	NP_958786.1:p.Thr4326Asn
ENST00000322810.8:c.13388C>A	ENSP00000323856.4:p.Thr4463Asn
ENST00000345136.7:c.12977C>A	ENSP00000344848.3:p.Thr4326Asn
ENST00000354589.7:c.12977C>A	ENSP00000346602.3:p.Thr4326Asn
ENST00000354958.6:c.12911C>A	ENSP00000347044.2:p.Thr4304Asn
ENST00000357649.6:c.12989C>A	ENSP00000350277.2:p.Thr4330Asn
ENST00000398774.6:c.12881C>A	ENSP00000381756.2:p.Thr4294Asn
ENST00000436759.6:c.13058C>A	ENSP00000388180.2:p.Thr4353Asn
ENST00000527096.5:c.13046C>A	ENSP00000434583.1:p.Thr4349Asn
ENST00000527303.2:c.9677C>A	ENSP00000433982.2:p.Thr3226Asn
ENST00000528025.6:c.13109C>A	ENSP00000437303.2:p.Thr4370Asn
ENST00000685198.1:c.13028C>A	ENSP00000510528.1:p.Thr4343Asn
ENST00000687971.1:c.12695C>A	ENSP00000510788.1:p.Thr4232Asn
ENST00000693060.1:c.12908C>A	ENSP00000510329.1:p.Thr4303Asn
XM_005250976.2:c.13403C>A	XP_005251033.1:p.Thr4468Asn
XM_005250976.4:c.13403C>A	XP_005251033.1:p.Thr4468Asn
XM_005250978.2:c.13004C>A	XP_005251035.1:p.Thr4335Asn
XM_005250978.3:c.13004C>A	XP_005251035.1:p.Thr4335Asn
XM_005250979.3:c.12992C>A	XP_005251036.1:p.Thr4331Asn
XM_005250979.4:c.12992C>A	XP_005251036.1:p.Thr4331Asn
XM_005250980.3:c.12992C>A	XP_005251037.1:p.Thr4331Asn
XM_005250980.4:c.12992C>A	XP_005251037.1:p.Thr4331Asn
XM_005250981.2:c.12950C>A	XP_005251038.1:p.Thr4317Asn
XM_005250981.3:c.12950C>A	XP_005251038.1:p.Thr4317Asn
XM_005250982.2:c.12926C>A	XP_005251039.1:p.Thr4309Asn
XM_005250982.4:c.12926C>A	XP_005251039.1:p.Thr4309Asn
XM_005250983.2:c.12908C>A	XP_005251040.1:p.Thr4303Asn
XM_005250984.3:c.12896C>A	XP_005251041.1:p.Thr4299Asn
XM_005250984.5:c.12896C>A	XP_005251041.1:p.Thr4299Asn
XM_006716588.2:c.13073C>A	XP_006716651.1:p.Thr4358Asn
XM_006716588.3:c.13073C>A	XP_006716651.1:p.Thr4358Asn
XM_006716589.2:c.12923C>A	XP_006716652.1:p.Thr4308Asn
XM_006716590.2:c.12923C>A	XP_006716653.1:p.Thr4308Asn
XM_006716590.3:c.12923C>A	XP_006716653.1:p.Thr4308Asn
XM_011517130.1:c.12992C>A	XP_011515432.1:p.Thr4331Asn
XM_011517130.2:c.12992C>A	XP_011515432.1:p.Thr4331Asn
XM_011517131.1:c.12908C>A	XP_011515433.1:p.Thr4303Asn
XM_011517131.2:c.12908C>A	XP_011515433.1:p.Thr4303Asn
XM_011517132.1:c.9623C>A	XP_011515434.1:p.Thr3208Asn
XM_011517132.2:c.9623C>A	XP_011515434.1:p.Thr3208Asn