Canonical Allele Identifier: CA1826037399

Gene: PLEC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916567G= , CM000670.2:g.143916567G=	GRCh38
NC_000008.10:g.144990735G= , CM000670.1:g.144990735G=	GRCh37
NC_000008.9:g.145062723G=	NCBI36
NG_012492.1:g.65179C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13386C=	ENSP00000437303.2:p.Asp4462=
ENST00000685198.1:c.13305C=	ENSP00000510528.1:p.Asp4435=
ENST00000687971.1:c.12972C=	ENSP00000510788.1:p.Asp4324=
ENST00000693060.1:c.13185C=	ENSP00000510329.1:p.Asp4395=
ENST00000345136.8:c.13254C= MANE Select	ENSP00000344848.3:p.Asp4418=
ENST00000527303.2:c.9954C=	ENSP00000433982.2:p.Asp3318=
ENST00000322810.8:c.13665C=	ENSP00000323856.4:p.Asp4555=
ENST00000345136.7:c.13254C=	ENSP00000344848.3:p.Asp4418=
ENST00000354589.7:c.13254C=	ENSP00000346602.3:p.Asp4418=
ENST00000354958.6:c.13188C=	ENSP00000347044.2:p.Asp4396=
ENST00000356346.7:c.13212C= MANE Plus Clinical	ENSP00000348702.3:p.Asp4404=
ENST00000357649.6:c.13266C=	ENSP00000350277.2:p.Asp4422=
ENST00000398774.6:c.13158C=	ENSP00000381756.2:p.Asp4386=
ENST00000436759.6:c.13335C=	ENSP00000388180.2:p.Asp4445=
ENST00000527096.5:c.13323C=	ENSP00000434583.1:p.Asp4441=
NM_000445.4:c.13335C=	NP_000436.2:p.Asp4445=
NM_201378.3:c.13212C=	NP_958780.1:p.Asp4404=
NM_201379.2:c.13188C=	NP_958781.1:p.Asp4396=
NM_201380.3:c.13665C=	NP_958782.1:p.Asp4555=
NM_201381.2:c.13158C=	NP_958783.1:p.Asp4386=
NM_201382.3:c.13254C=	NP_958784.1:p.Asp4418=
NM_201383.2:c.13266C=	NP_958785.1:p.Asp4422=
NM_201384.2:c.13254C=	NP_958786.1:p.Asp4418=
XM_005250976.2:c.13680C=	XP_005251033.1:p.Asp4560=
XM_005250978.2:c.13281C=	XP_005251035.1:p.Asp4427=
XM_005250979.3:c.13269C=	XP_005251036.1:p.Asp4423=
XM_005250980.3:c.13269C=	XP_005251037.1:p.Asp4423=
XM_005250981.2:c.13227C=	XP_005251038.1:p.Asp4409=
XM_005250982.2:c.13203C=	XP_005251039.1:p.Asp4401=
XM_005250983.2:c.13185C=	XP_005251040.1:p.Asp4395=
XM_005250984.3:c.13173C=	XP_005251041.1:p.Asp4391=
XM_006716588.2:c.13350C=	XP_006716651.1:p.Asp4450=
XM_006716589.2:c.13200C=	XP_006716652.1:p.Asp4400=
XM_006716590.2:c.13200C=	XP_006716653.1:p.Asp4400=
XM_011517130.1:c.13269C=	XP_011515432.1:p.Asp4423=
XM_011517131.1:c.13185C=	XP_011515433.1:p.Asp4395=
XM_011517132.1:c.9900C=	XP_011515434.1:p.Asp3300=
XM_005250976.4:c.13680C=	XP_005251033.1:p.Asp4560=
XM_005250978.3:c.13281C=	XP_005251035.1:p.Asp4427=
XM_005250979.4:c.13269C=	XP_005251036.1:p.Asp4423=
XM_005250980.4:c.13269C=	XP_005251037.1:p.Asp4423=
XM_005250981.3:c.13227C=	XP_005251038.1:p.Asp4409=
XM_005250982.4:c.13203C=	XP_005251039.1:p.Asp4401=
XM_005250984.5:c.13173C=	XP_005251041.1:p.Asp4391=
XM_006716588.3:c.13350C=	XP_006716651.1:p.Asp4450=
XM_006716590.3:c.13200C=	XP_006716653.1:p.Asp4400=
XM_011517130.2:c.13269C=	XP_011515432.1:p.Asp4423=
XM_011517131.2:c.13185C=	XP_011515433.1:p.Asp4395=
XM_011517132.2:c.9900C=	XP_011515434.1:p.Asp3300=
NM_000445.5:c.13335C=	NP_000436.2:p.Asp4445=
NM_201378.4:c.13212C= MANE Plus Clinical	NP_958780.1:p.Asp4404=
NM_201379.3:c.13188C=	NP_958781.1:p.Asp4396=
NM_201380.4:c.13665C=	NP_958782.1:p.Asp4555=
NM_201381.3:c.13158C=	NP_958783.1:p.Asp4386=
NM_201382.4:c.13254C=	NP_958784.1:p.Asp4418=
NM_201383.3:c.13266C=	NP_958785.1:p.Asp4422=
NM_201384.3:c.13254C= MANE Select	NP_958786.1:p.Asp4418=