Canonical Allele Identifier: CA4927171

Gene: PLEC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143929155T>C , CM000670.2:g.143929155T>C	GRCh38
NC_000008.10:g.145003323T>C , CM000670.1:g.145003323T>C	GRCh37
NC_000008.9:g.145075311T>C	NCBI36
NG_012492.1:g.52591A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_201384.3:c.3208A>G MANE Select	NP_958786.1:p.Thr1070Ala
ENST00000345136.8:c.3208A>G MANE Select	ENSP00000344848.3:p.Thr1070Ala
NM_201378.4:c.3166A>G MANE Plus Clinical	NP_958780.1:p.Thr1056Ala
ENST00000356346.7:c.3166A>G MANE Plus Clinical	ENSP00000348702.3:p.Thr1056Ala
NM_000445.4:c.3289A>G	NP_000436.2:p.Thr1097Ala
NM_000445.5:c.3289A>G	NP_000436.2:p.Thr1097Ala
NM_201378.3:c.3166A>G	NP_958780.1:p.Thr1056Ala
NM_201379.2:c.3142A>G	NP_958781.1:p.Thr1048Ala
NM_201379.3:c.3142A>G	NP_958781.1:p.Thr1048Ala
NM_201380.3:c.3619A>G	NP_958782.1:p.Thr1207Ala
NM_201380.4:c.3619A>G	NP_958782.1:p.Thr1207Ala
NM_201381.2:c.3112A>G	NP_958783.1:p.Thr1038Ala
NM_201381.3:c.3112A>G	NP_958783.1:p.Thr1038Ala
NM_201382.3:c.3208A>G	NP_958784.1:p.Thr1070Ala
NM_201382.4:c.3208A>G	NP_958784.1:p.Thr1070Ala
NM_201383.2:c.3220A>G	NP_958785.1:p.Thr1074Ala
NM_201383.3:c.3220A>G	NP_958785.1:p.Thr1074Ala
NM_201384.2:c.3208A>G	NP_958786.1:p.Thr1070Ala
ENST00000322810.8:c.3619A>G	ENSP00000323856.4:p.Thr1207Ala
ENST00000345136.7:c.3208A>G	ENSP00000344848.3:p.Thr1070Ala
ENST00000354589.7:c.3208A>G	ENSP00000346602.3:p.Thr1070Ala
ENST00000354958.6:c.3142A>G	ENSP00000347044.2:p.Thr1048Ala
ENST00000357649.6:c.3220A>G	ENSP00000350277.2:p.Thr1074Ala
ENST00000398774.6:c.3112A>G	ENSP00000381756.2:p.Thr1038Ala
ENST00000436759.6:c.3289A>G	ENSP00000388180.2:p.Thr1097Ala
ENST00000527096.5:c.3277A>G	ENSP00000434583.1:p.Thr1093Ala
ENST00000527303.2:c.3289A>G	ENSP00000433982.2:p.Thr1097Ala
ENST00000528025.6:c.3340A>G	ENSP00000437303.2:p.Thr1114Ala
ENST00000685198.1:c.3259A>G	ENSP00000510528.1:p.Thr1087Ala
ENST00000687971.1:c.2926A>G	ENSP00000510788.1:p.Thr976Ala
ENST00000693060.1:c.3139A>G	ENSP00000510329.1:p.Thr1047Ala
XM_005250976.2:c.3634A>G	XP_005251033.1:p.Thr1212Ala
XM_005250976.4:c.3634A>G	XP_005251033.1:p.Thr1212Ala
XM_005250978.2:c.3235A>G	XP_005251035.1:p.Thr1079Ala
XM_005250978.3:c.3235A>G	XP_005251035.1:p.Thr1079Ala
XM_005250979.3:c.3223A>G	XP_005251036.1:p.Thr1075Ala
XM_005250979.4:c.3223A>G	XP_005251036.1:p.Thr1075Ala
XM_005250980.3:c.3223A>G	XP_005251037.1:p.Thr1075Ala
XM_005250980.4:c.3223A>G	XP_005251037.1:p.Thr1075Ala
XM_005250981.2:c.3181A>G	XP_005251038.1:p.Thr1061Ala
XM_005250981.3:c.3181A>G	XP_005251038.1:p.Thr1061Ala
XM_005250982.2:c.3157A>G	XP_005251039.1:p.Thr1053Ala
XM_005250982.4:c.3157A>G	XP_005251039.1:p.Thr1053Ala
XM_005250983.2:c.3139A>G	XP_005251040.1:p.Thr1047Ala
XM_005250984.3:c.3127A>G	XP_005251041.1:p.Thr1043Ala
XM_005250984.5:c.3127A>G	XP_005251041.1:p.Thr1043Ala
XM_006716588.2:c.3304A>G	XP_006716651.1:p.Thr1102Ala
XM_006716588.3:c.3304A>G	XP_006716651.1:p.Thr1102Ala
XM_006716589.2:c.3154A>G	XP_006716652.1:p.Thr1052Ala
XM_006716590.2:c.3154A>G	XP_006716653.1:p.Thr1052Ala
XM_006716590.3:c.3154A>G	XP_006716653.1:p.Thr1052Ala
XM_011517130.1:c.3223A>G	XP_011515432.1:p.Thr1075Ala
XM_011517130.2:c.3223A>G	XP_011515432.1:p.Thr1075Ala
XM_011517131.1:c.3139A>G	XP_011515433.1:p.Thr1047Ala
XM_011517131.2:c.3139A>G	XP_011515433.1:p.Thr1047Ala
XM_011517132.1:c.3235A>G	XP_011515434.1:p.Thr1079Ala
XM_011517132.2:c.3235A>G	XP_011515434.1:p.Thr1079Ala