Canonical Allele Identifier: CA4924238

Gene: PLEC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143917993G>T , CM000670.2:g.143917993G>T	GRCh38
NC_000008.10:g.144992161G>T , CM000670.1:g.144992161G>T	GRCh37
NC_000008.9:g.145064149G>T	NCBI36
NG_012492.1:g.63753C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_201384.3:c.11828C>A MANE Select	NP_958786.1:p.Thr3943Asn
ENST00000345136.8:c.11828C>A MANE Select	ENSP00000344848.3:p.Thr3943Asn
NM_201378.4:c.11786C>A MANE Plus Clinical	NP_958780.1:p.Thr3929Asn
ENST00000356346.7:c.11786C>A MANE Plus Clinical	ENSP00000348702.3:p.Thr3929Asn
NM_000445.4:c.11909C>A	NP_000436.2:p.Thr3970Asn
NM_000445.5:c.11909C>A	NP_000436.2:p.Thr3970Asn
NM_201378.3:c.11786C>A	NP_958780.1:p.Thr3929Asn
NM_201379.2:c.11762C>A	NP_958781.1:p.Thr3921Asn
NM_201379.3:c.11762C>A	NP_958781.1:p.Thr3921Asn
NM_201380.3:c.12239C>A	NP_958782.1:p.Thr4080Asn
NM_201380.4:c.12239C>A	NP_958782.1:p.Thr4080Asn
NM_201381.2:c.11732C>A	NP_958783.1:p.Thr3911Asn
NM_201381.3:c.11732C>A	NP_958783.1:p.Thr3911Asn
NM_201382.3:c.11828C>A	NP_958784.1:p.Thr3943Asn
NM_201382.4:c.11828C>A	NP_958784.1:p.Thr3943Asn
NM_201383.2:c.11840C>A	NP_958785.1:p.Thr3947Asn
NM_201383.3:c.11840C>A	NP_958785.1:p.Thr3947Asn
NM_201384.2:c.11828C>A	NP_958786.1:p.Thr3943Asn
ENST00000322810.8:c.12239C>A	ENSP00000323856.4:p.Thr4080Asn
ENST00000345136.7:c.11828C>A	ENSP00000344848.3:p.Thr3943Asn
ENST00000354589.7:c.11828C>A	ENSP00000346602.3:p.Thr3943Asn
ENST00000354958.6:c.11762C>A	ENSP00000347044.2:p.Thr3921Asn
ENST00000357649.6:c.11840C>A	ENSP00000350277.2:p.Thr3947Asn
ENST00000398774.6:c.11732C>A	ENSP00000381756.2:p.Thr3911Asn
ENST00000436759.6:c.11909C>A	ENSP00000388180.2:p.Thr3970Asn
ENST00000527096.5:c.11897C>A	ENSP00000434583.1:p.Thr3966Asn
ENST00000527303.2:c.8528C>A	ENSP00000433982.2:p.Thr2843Asn
ENST00000528025.6:c.11960C>A	ENSP00000437303.2:p.Thr3987Asn
ENST00000685198.1:c.11879C>A	ENSP00000510528.1:p.Thr3960Asn
ENST00000687971.1:c.11546C>A	ENSP00000510788.1:p.Thr3849Asn
ENST00000693060.1:c.11759C>A	ENSP00000510329.1:p.Thr3920Asn
XM_005250976.2:c.12254C>A	XP_005251033.1:p.Thr4085Asn
XM_005250976.4:c.12254C>A	XP_005251033.1:p.Thr4085Asn
XM_005250978.2:c.11855C>A	XP_005251035.1:p.Thr3952Asn
XM_005250978.3:c.11855C>A	XP_005251035.1:p.Thr3952Asn
XM_005250979.3:c.11843C>A	XP_005251036.1:p.Thr3948Asn
XM_005250979.4:c.11843C>A	XP_005251036.1:p.Thr3948Asn
XM_005250980.3:c.11843C>A	XP_005251037.1:p.Thr3948Asn
XM_005250980.4:c.11843C>A	XP_005251037.1:p.Thr3948Asn
XM_005250981.2:c.11801C>A	XP_005251038.1:p.Thr3934Asn
XM_005250981.3:c.11801C>A	XP_005251038.1:p.Thr3934Asn
XM_005250982.2:c.11777C>A	XP_005251039.1:p.Thr3926Asn
XM_005250982.4:c.11777C>A	XP_005251039.1:p.Thr3926Asn
XM_005250983.2:c.11759C>A	XP_005251040.1:p.Thr3920Asn
XM_005250984.3:c.11747C>A	XP_005251041.1:p.Thr3916Asn
XM_005250984.5:c.11747C>A	XP_005251041.1:p.Thr3916Asn
XM_006716588.2:c.11924C>A	XP_006716651.1:p.Thr3975Asn
XM_006716588.3:c.11924C>A	XP_006716651.1:p.Thr3975Asn
XM_006716589.2:c.11774C>A	XP_006716652.1:p.Thr3925Asn
XM_006716590.2:c.11774C>A	XP_006716653.1:p.Thr3925Asn
XM_006716590.3:c.11774C>A	XP_006716653.1:p.Thr3925Asn
XM_011517130.1:c.11843C>A	XP_011515432.1:p.Thr3948Asn
XM_011517130.2:c.11843C>A	XP_011515432.1:p.Thr3948Asn
XM_011517131.1:c.11759C>A	XP_011515433.1:p.Thr3920Asn
XM_011517131.2:c.11759C>A	XP_011515433.1:p.Thr3920Asn
XM_011517132.1:c.8474C>A	XP_011515434.1:p.Thr2825Asn
XM_011517132.2:c.8474C>A	XP_011515434.1:p.Thr2825Asn