Canonical Allele Identifier: CA4927166

Gene: PLEC

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143929136T>C , CM000670.2:g.143929136T>C	GRCh38
NC_000008.10:g.145003304T>C , CM000670.1:g.145003304T>C	GRCh37
NC_000008.9:g.145075292T>C	NCBI36
NG_012492.1:g.52610A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.3359A>G	ENSP00000437303.2:p.Gln1120Arg
ENST00000685198.1:c.3278A>G	ENSP00000510528.1:p.Gln1093Arg
ENST00000687971.1:c.2945A>G	ENSP00000510788.1:p.Gln982Arg
ENST00000693060.1:c.3158A>G	ENSP00000510329.1:p.Gln1053Arg
ENST00000345136.8:c.3227A>G MANE Select	ENSP00000344848.3:p.Gln1076Arg
ENST00000527303.2:c.3308A>G	ENSP00000433982.2:p.Gln1103Arg
ENST00000322810.8:c.3638A>G	ENSP00000323856.4:p.Gln1213Arg
ENST00000345136.7:c.3227A>G	ENSP00000344848.3:p.Gln1076Arg
ENST00000354589.7:c.3227A>G	ENSP00000346602.3:p.Gln1076Arg
ENST00000354958.6:c.3161A>G	ENSP00000347044.2:p.Gln1054Arg
ENST00000356346.7:c.3185A>G MANE Plus Clinical	ENSP00000348702.3:p.Gln1062Arg
ENST00000357649.6:c.3239A>G	ENSP00000350277.2:p.Gln1080Arg
ENST00000398774.6:c.3131A>G	ENSP00000381756.2:p.Gln1044Arg
ENST00000436759.6:c.3308A>G	ENSP00000388180.2:p.Gln1103Arg
ENST00000527096.5:c.3296A>G	ENSP00000434583.1:p.Gln1099Arg
NM_000445.4:c.3308A>G	NP_000436.2:p.Gln1103Arg
NM_201378.3:c.3185A>G	NP_958780.1:p.Gln1062Arg
NM_201379.2:c.3161A>G	NP_958781.1:p.Gln1054Arg
NM_201380.3:c.3638A>G	NP_958782.1:p.Gln1213Arg
NM_201381.2:c.3131A>G	NP_958783.1:p.Gln1044Arg
NM_201382.3:c.3227A>G	NP_958784.1:p.Gln1076Arg
NM_201383.2:c.3239A>G	NP_958785.1:p.Gln1080Arg
NM_201384.2:c.3227A>G	NP_958786.1:p.Gln1076Arg
XM_005250976.2:c.3653A>G	XP_005251033.1:p.Gln1218Arg
XM_005250978.2:c.3254A>G	XP_005251035.1:p.Gln1085Arg
XM_005250979.3:c.3242A>G	XP_005251036.1:p.Gln1081Arg
XM_005250980.3:c.3242A>G	XP_005251037.1:p.Gln1081Arg
XM_005250981.2:c.3200A>G	XP_005251038.1:p.Gln1067Arg
XM_005250982.2:c.3176A>G	XP_005251039.1:p.Gln1059Arg
XM_005250983.2:c.3158A>G	XP_005251040.1:p.Gln1053Arg
XM_005250984.3:c.3146A>G	XP_005251041.1:p.Gln1049Arg
XM_006716588.2:c.3323A>G	XP_006716651.1:p.Gln1108Arg
XM_006716589.2:c.3173A>G	XP_006716652.1:p.Gln1058Arg
XM_006716590.2:c.3173A>G	XP_006716653.1:p.Gln1058Arg
XM_011517130.1:c.3242A>G	XP_011515432.1:p.Gln1081Arg
XM_011517131.1:c.3158A>G	XP_011515433.1:p.Gln1053Arg
XM_011517132.1:c.3254A>G	XP_011515434.1:p.Gln1085Arg
XM_005250976.4:c.3653A>G	XP_005251033.1:p.Gln1218Arg
XM_005250978.3:c.3254A>G	XP_005251035.1:p.Gln1085Arg
XM_005250979.4:c.3242A>G	XP_005251036.1:p.Gln1081Arg
XM_005250980.4:c.3242A>G	XP_005251037.1:p.Gln1081Arg
XM_005250981.3:c.3200A>G	XP_005251038.1:p.Gln1067Arg
XM_005250982.4:c.3176A>G	XP_005251039.1:p.Gln1059Arg
XM_005250984.5:c.3146A>G	XP_005251041.1:p.Gln1049Arg
XM_006716588.3:c.3323A>G	XP_006716651.1:p.Gln1108Arg
XM_006716590.3:c.3173A>G	XP_006716653.1:p.Gln1058Arg
XM_011517130.2:c.3242A>G	XP_011515432.1:p.Gln1081Arg
XM_011517131.2:c.3158A>G	XP_011515433.1:p.Gln1053Arg
XM_011517132.2:c.3254A>G	XP_011515434.1:p.Gln1085Arg
NM_000445.5:c.3308A>G	NP_000436.2:p.Gln1103Arg
NM_201378.4:c.3185A>G MANE Plus Clinical	NP_958780.1:p.Gln1062Arg
NM_201379.3:c.3161A>G	NP_958781.1:p.Gln1054Arg
NM_201380.4:c.3638A>G	NP_958782.1:p.Gln1213Arg
NM_201381.3:c.3131A>G	NP_958783.1:p.Gln1044Arg
NM_201382.4:c.3227A>G	NP_958784.1:p.Gln1076Arg
NM_201383.3:c.3239A>G	NP_958785.1:p.Gln1080Arg
NM_201384.3:c.3227A>G MANE Select	NP_958786.1:p.Gln1076Arg