Canonical Allele Identifier: CA249458

Gene: PLEC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143934923G>A , CM000670.2:g.143934923G>A	GRCh38
NC_000008.10:g.145009091G>A , CM000670.1:g.145009091G>A	GRCh37
NC_000008.9:g.145081079G>A	NCBI36
NG_012492.1:g.46823C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.964C>T	ENSP00000437303.2:p.Gln322Ter
ENST00000685198.1:c.883C>T	ENSP00000510528.1:p.Gln295Ter
ENST00000687971.1:c.550C>T	ENSP00000510788.1:p.Gln184Ter
ENST00000693060.1:c.763C>T	ENSP00000510329.1:p.Gln255Ter
ENST00000345136.8:c.832C>T MANE Select	ENSP00000344848.3:p.Gln278Ter
ENST00000527303.2:c.913C>T	ENSP00000433982.2:p.Gln305Ter
ENST00000322810.8:c.1243C>T	ENSP00000323856.4:p.Gln415Ter
ENST00000345136.7:c.832C>T	ENSP00000344848.3:p.Gln278Ter
ENST00000354589.7:c.832C>T	ENSP00000346602.3:p.Gln278Ter
ENST00000354958.6:c.766C>T	ENSP00000347044.2:p.Gln256Ter
ENST00000356346.7:c.790C>T MANE Plus Clinical	ENSP00000348702.3:p.Gln264Ter
ENST00000357649.6:c.844C>T	ENSP00000350277.2:p.Gln282Ter
ENST00000398774.6:c.736C>T	ENSP00000381756.2:p.Gln246Ter
ENST00000436759.6:c.913C>T	ENSP00000388180.2:p.Gln305Ter
ENST00000527096.5:c.901C>T	ENSP00000434583.1:p.Gln301Ter
ENST00000528025.5:c.964C>T	ENSP00000437303.1:p.Gln322Ter
NM_000445.4:c.913C>T	NP_000436.2:p.Gln305Ter
NM_201378.3:c.790C>T	NP_958780.1:p.Gln264Ter
NM_201379.2:c.766C>T	NP_958781.1:p.Gln256Ter
NM_201380.3:c.1243C>T	NP_958782.1:p.Gln415Ter
NM_201381.2:c.736C>T	NP_958783.1:p.Gln246Ter
NM_201382.3:c.832C>T	NP_958784.1:p.Gln278Ter
NM_201383.2:c.844C>T	NP_958785.1:p.Gln282Ter
NM_201384.2:c.832C>T	NP_958786.1:p.Gln278Ter
XM_005250976.2:c.1258C>T	XP_005251033.1:p.Gln420Ter
XM_005250978.2:c.859C>T	XP_005251035.1:p.Gln287Ter
XM_005250979.3:c.847C>T	XP_005251036.1:p.Gln283Ter
XM_005250980.3:c.847C>T	XP_005251037.1:p.Gln283Ter
XM_005250981.2:c.805C>T	XP_005251038.1:p.Gln269Ter
XM_005250982.2:c.781C>T	XP_005251039.1:p.Gln261Ter
XM_005250983.2:c.763C>T	XP_005251040.1:p.Gln255Ter
XM_005250984.3:c.751C>T	XP_005251041.1:p.Gln251Ter
XM_006716588.2:c.928C>T	XP_006716651.1:p.Gln310Ter
XM_006716589.2:c.778C>T	XP_006716652.1:p.Gln260Ter
XM_006716590.2:c.778C>T	XP_006716653.1:p.Gln260Ter
XM_011517130.1:c.847C>T	XP_011515432.1:p.Gln283Ter
XM_011517131.1:c.763C>T	XP_011515433.1:p.Gln255Ter
XM_011517132.1:c.859C>T	XP_011515434.1:p.Gln287Ter
XM_005250976.4:c.1258C>T	XP_005251033.1:p.Gln420Ter
XM_005250978.3:c.859C>T	XP_005251035.1:p.Gln287Ter
XM_005250979.4:c.847C>T	XP_005251036.1:p.Gln283Ter
XM_005250980.4:c.847C>T	XP_005251037.1:p.Gln283Ter
XM_005250981.3:c.805C>T	XP_005251038.1:p.Gln269Ter
XM_005250982.4:c.781C>T	XP_005251039.1:p.Gln261Ter
XM_005250984.5:c.751C>T	XP_005251041.1:p.Gln251Ter
XM_006716588.3:c.928C>T	XP_006716651.1:p.Gln310Ter
XM_006716590.3:c.778C>T	XP_006716653.1:p.Gln260Ter
XM_011517130.2:c.847C>T	XP_011515432.1:p.Gln283Ter
XM_011517131.2:c.763C>T	XP_011515433.1:p.Gln255Ter
XM_011517132.2:c.859C>T	XP_011515434.1:p.Gln287Ter
NM_000445.5:c.913C>T	NP_000436.2:p.Gln305Ter
NM_201378.4:c.790C>T MANE Plus Clinical	NP_958780.1:p.Gln264Ter
NM_201379.3:c.766C>T	NP_958781.1:p.Gln256Ter
NM_201380.4:c.1243C>T	NP_958782.1:p.Gln415Ter
NM_201381.3:c.736C>T	NP_958783.1:p.Gln246Ter
NM_201382.4:c.832C>T	NP_958784.1:p.Gln278Ter
NM_201383.3:c.844C>T	NP_958785.1:p.Gln282Ter
NM_201384.3:c.832C>T MANE Select	NP_958786.1:p.Gln278Ter