Canonical Allele Identifier: CA1826037043

Gene: PLEC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916363G= , CM000670.2:g.143916363G=	GRCh38
NC_000008.10:g.144990531G= , CM000670.1:g.144990531G=	GRCh37
NC_000008.9:g.145062519G=	NCBI36
NG_012492.1:g.65383C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13590C=	ENSP00000437303.2:p.Thr4530=
ENST00000685198.1:c.13509C=	ENSP00000510528.1:p.Thr4503=
ENST00000687971.1:c.13176C=	ENSP00000510788.1:p.Thr4392=
ENST00000693060.1:c.13389C=	ENSP00000510329.1:p.Thr4463=
ENST00000345136.8:c.13458C= MANE Select	ENSP00000344848.3:p.Thr4486=
ENST00000527303.2:c.10158C=	ENSP00000433982.2:p.Thr3386=
ENST00000322810.8:c.13869C=	ENSP00000323856.4:p.Thr4623=
ENST00000345136.7:c.13458C=	ENSP00000344848.3:p.Thr4486=
ENST00000354589.7:c.13458C=	ENSP00000346602.3:p.Thr4486=
ENST00000354958.6:c.13392C=	ENSP00000347044.2:p.Thr4464=
ENST00000356346.7:c.13416C= MANE Plus Clinical	ENSP00000348702.3:p.Thr4472=
ENST00000357649.6:c.13470C=	ENSP00000350277.2:p.Thr4490=
ENST00000398774.6:c.13362C=	ENSP00000381756.2:p.Thr4454=
ENST00000436759.6:c.13539C=	ENSP00000388180.2:p.Thr4513=
ENST00000527096.5:c.13527C=	ENSP00000434583.1:p.Thr4509=
NM_000445.4:c.13539C=	NP_000436.2:p.Thr4513=
NM_201378.3:c.13416C=	NP_958780.1:p.Thr4472=
NM_201379.2:c.13392C=	NP_958781.1:p.Thr4464=
NM_201380.3:c.13869C=	NP_958782.1:p.Thr4623=
NM_201381.2:c.13362C=	NP_958783.1:p.Thr4454=
NM_201382.3:c.13458C=	NP_958784.1:p.Thr4486=
NM_201383.2:c.13470C=	NP_958785.1:p.Thr4490=
NM_201384.2:c.13458C=	NP_958786.1:p.Thr4486=
XM_005250976.2:c.13884C=	XP_005251033.1:p.Thr4628=
XM_005250978.2:c.13485C=	XP_005251035.1:p.Thr4495=
XM_005250979.3:c.13473C=	XP_005251036.1:p.Thr4491=
XM_005250980.3:c.13473C=	XP_005251037.1:p.Thr4491=
XM_005250981.2:c.13431C=	XP_005251038.1:p.Thr4477=
XM_005250982.2:c.13407C=	XP_005251039.1:p.Thr4469=
XM_005250983.2:c.13389C=	XP_005251040.1:p.Thr4463=
XM_005250984.3:c.13377C=	XP_005251041.1:p.Thr4459=
XM_006716588.2:c.13554C=	XP_006716651.1:p.Thr4518=
XM_006716589.2:c.13404C=	XP_006716652.1:p.Thr4468=
XM_006716590.2:c.13404C=	XP_006716653.1:p.Thr4468=
XM_011517130.1:c.13473C=	XP_011515432.1:p.Thr4491=
XM_011517131.1:c.13389C=	XP_011515433.1:p.Thr4463=
XM_011517132.1:c.10104C=	XP_011515434.1:p.Thr3368=
XM_005250976.4:c.13884C=	XP_005251033.1:p.Thr4628=
XM_005250978.3:c.13485C=	XP_005251035.1:p.Thr4495=
XM_005250979.4:c.13473C=	XP_005251036.1:p.Thr4491=
XM_005250980.4:c.13473C=	XP_005251037.1:p.Thr4491=
XM_005250981.3:c.13431C=	XP_005251038.1:p.Thr4477=
XM_005250982.4:c.13407C=	XP_005251039.1:p.Thr4469=
XM_005250984.5:c.13377C=	XP_005251041.1:p.Thr4459=
XM_006716588.3:c.13554C=	XP_006716651.1:p.Thr4518=
XM_006716590.3:c.13404C=	XP_006716653.1:p.Thr4468=
XM_011517130.2:c.13473C=	XP_011515432.1:p.Thr4491=
XM_011517131.2:c.13389C=	XP_011515433.1:p.Thr4463=
XM_011517132.2:c.10104C=	XP_011515434.1:p.Thr3368=
NM_000445.5:c.13539C=	NP_000436.2:p.Thr4513=
NM_201378.4:c.13416C= MANE Plus Clinical	NP_958780.1:p.Thr4472=
NM_201379.3:c.13392C=	NP_958781.1:p.Thr4464=
NM_201380.4:c.13869C=	NP_958782.1:p.Thr4623=
NM_201381.3:c.13362C=	NP_958783.1:p.Thr4454=
NM_201382.4:c.13458C=	NP_958784.1:p.Thr4486=
NM_201383.3:c.13470C=	NP_958785.1:p.Thr4490=
NM_201384.3:c.13458C= MANE Select	NP_958786.1:p.Thr4486=