Canonical Allele Identifier: CA1826037168

Gene: PLEC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916435C= , CM000670.2:g.143916435C=	GRCh38
NC_000008.10:g.144990603C= , CM000670.1:g.144990603C=	GRCh37
NC_000008.9:g.145062591C=	NCBI36
NG_012492.1:g.65311G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13518G=	ENSP00000437303.2:p.Arg4506=
ENST00000685198.1:c.13437G=	ENSP00000510528.1:p.Arg4479=
ENST00000687971.1:c.13104G=	ENSP00000510788.1:p.Arg4368=
ENST00000693060.1:c.13317G=	ENSP00000510329.1:p.Arg4439=
ENST00000345136.8:c.13386G= MANE Select	ENSP00000344848.3:p.Arg4462=
ENST00000527303.2:c.10086G=	ENSP00000433982.2:p.Arg3362=
ENST00000322810.8:c.13797G=	ENSP00000323856.4:p.Arg4599=
ENST00000345136.7:c.13386G=	ENSP00000344848.3:p.Arg4462=
ENST00000354589.7:c.13386G=	ENSP00000346602.3:p.Arg4462=
ENST00000354958.6:c.13320G=	ENSP00000347044.2:p.Arg4440=
ENST00000356346.7:c.13344G= MANE Plus Clinical	ENSP00000348702.3:p.Arg4448=
ENST00000357649.6:c.13398G=	ENSP00000350277.2:p.Arg4466=
ENST00000398774.6:c.13290G=	ENSP00000381756.2:p.Arg4430=
ENST00000436759.6:c.13467G=	ENSP00000388180.2:p.Arg4489=
ENST00000527096.5:c.13455G=	ENSP00000434583.1:p.Arg4485=
NM_000445.4:c.13467G=	NP_000436.2:p.Arg4489=
NM_201378.3:c.13344G=	NP_958780.1:p.Arg4448=
NM_201379.2:c.13320G=	NP_958781.1:p.Arg4440=
NM_201380.3:c.13797G=	NP_958782.1:p.Arg4599=
NM_201381.2:c.13290G=	NP_958783.1:p.Arg4430=
NM_201382.3:c.13386G=	NP_958784.1:p.Arg4462=
NM_201383.2:c.13398G=	NP_958785.1:p.Arg4466=
NM_201384.2:c.13386G=	NP_958786.1:p.Arg4462=
XM_005250976.2:c.13812G=	XP_005251033.1:p.Arg4604=
XM_005250978.2:c.13413G=	XP_005251035.1:p.Arg4471=
XM_005250979.3:c.13401G=	XP_005251036.1:p.Arg4467=
XM_005250980.3:c.13401G=	XP_005251037.1:p.Arg4467=
XM_005250981.2:c.13359G=	XP_005251038.1:p.Arg4453=
XM_005250982.2:c.13335G=	XP_005251039.1:p.Arg4445=
XM_005250983.2:c.13317G=	XP_005251040.1:p.Arg4439=
XM_005250984.3:c.13305G=	XP_005251041.1:p.Arg4435=
XM_006716588.2:c.13482G=	XP_006716651.1:p.Arg4494=
XM_006716589.2:c.13332G=	XP_006716652.1:p.Arg4444=
XM_006716590.2:c.13332G=	XP_006716653.1:p.Arg4444=
XM_011517130.1:c.13401G=	XP_011515432.1:p.Arg4467=
XM_011517131.1:c.13317G=	XP_011515433.1:p.Arg4439=
XM_011517132.1:c.10032G=	XP_011515434.1:p.Arg3344=
XM_005250976.4:c.13812G=	XP_005251033.1:p.Arg4604=
XM_005250978.3:c.13413G=	XP_005251035.1:p.Arg4471=
XM_005250979.4:c.13401G=	XP_005251036.1:p.Arg4467=
XM_005250980.4:c.13401G=	XP_005251037.1:p.Arg4467=
XM_005250981.3:c.13359G=	XP_005251038.1:p.Arg4453=
XM_005250982.4:c.13335G=	XP_005251039.1:p.Arg4445=
XM_005250984.5:c.13305G=	XP_005251041.1:p.Arg4435=
XM_006716588.3:c.13482G=	XP_006716651.1:p.Arg4494=
XM_006716590.3:c.13332G=	XP_006716653.1:p.Arg4444=
XM_011517130.2:c.13401G=	XP_011515432.1:p.Arg4467=
XM_011517131.2:c.13317G=	XP_011515433.1:p.Arg4439=
XM_011517132.2:c.10032G=	XP_011515434.1:p.Arg3344=
NM_000445.5:c.13467G=	NP_000436.2:p.Arg4489=
NM_201378.4:c.13344G= MANE Plus Clinical	NP_958780.1:p.Arg4448=
NM_201379.3:c.13320G=	NP_958781.1:p.Arg4440=
NM_201380.4:c.13797G=	NP_958782.1:p.Arg4599=
NM_201381.3:c.13290G=	NP_958783.1:p.Arg4430=
NM_201382.4:c.13386G=	NP_958784.1:p.Arg4462=
NM_201383.3:c.13398G=	NP_958785.1:p.Arg4466=
NM_201384.3:c.13386G= MANE Select	NP_958786.1:p.Arg4462=