Canonical Allele Identifier: CA1826036899

Gene: PLEC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916321G= , CM000670.2:g.143916321G=	GRCh38
NC_000008.10:g.144990489G= , CM000670.1:g.144990489G=	GRCh37
NC_000008.9:g.145062477G=	NCBI36
NG_012492.1:g.65425C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13632C=	ENSP00000437303.2:p.Gly4544=
ENST00000685198.1:c.13551C=	ENSP00000510528.1:p.Gly4517=
ENST00000687971.1:c.13218C=	ENSP00000510788.1:p.Gly4406=
ENST00000693060.1:c.13431C=	ENSP00000510329.1:p.Gly4477=
ENST00000345136.8:c.13500C= MANE Select	ENSP00000344848.3:p.Gly4500=
ENST00000527303.2:c.10200C=	ENSP00000433982.2:p.Gly3400=
ENST00000322810.8:c.13911C=	ENSP00000323856.4:p.Gly4637=
ENST00000345136.7:c.13500C=	ENSP00000344848.3:p.Gly4500=
ENST00000354589.7:c.13500C=	ENSP00000346602.3:p.Gly4500=
ENST00000354958.6:c.13434C=	ENSP00000347044.2:p.Gly4478=
ENST00000356346.7:c.13458C= MANE Plus Clinical	ENSP00000348702.3:p.Gly4486=
ENST00000357649.6:c.13512C=	ENSP00000350277.2:p.Gly4504=
ENST00000398774.6:c.13404C=	ENSP00000381756.2:p.Gly4468=
ENST00000436759.6:c.13581C=	ENSP00000388180.2:p.Gly4527=
ENST00000527096.5:c.13569C=	ENSP00000434583.1:p.Gly4523=
NM_000445.4:c.13581C=	NP_000436.2:p.Gly4527=
NM_201378.3:c.13458C=	NP_958780.1:p.Gly4486=
NM_201379.2:c.13434C=	NP_958781.1:p.Gly4478=
NM_201380.3:c.13911C=	NP_958782.1:p.Gly4637=
NM_201381.2:c.13404C=	NP_958783.1:p.Gly4468=
NM_201382.3:c.13500C=	NP_958784.1:p.Gly4500=
NM_201383.2:c.13512C=	NP_958785.1:p.Gly4504=
NM_201384.2:c.13500C=	NP_958786.1:p.Gly4500=
XM_005250976.2:c.13926C=	XP_005251033.1:p.Gly4642=
XM_005250978.2:c.13527C=	XP_005251035.1:p.Gly4509=
XM_005250979.3:c.13515C=	XP_005251036.1:p.Gly4505=
XM_005250980.3:c.13515C=	XP_005251037.1:p.Gly4505=
XM_005250981.2:c.13473C=	XP_005251038.1:p.Gly4491=
XM_005250982.2:c.13449C=	XP_005251039.1:p.Gly4483=
XM_005250983.2:c.13431C=	XP_005251040.1:p.Gly4477=
XM_005250984.3:c.13419C=	XP_005251041.1:p.Gly4473=
XM_006716588.2:c.13596C=	XP_006716651.1:p.Gly4532=
XM_006716589.2:c.13446C=	XP_006716652.1:p.Gly4482=
XM_006716590.2:c.13446C=	XP_006716653.1:p.Gly4482=
XM_011517130.1:c.13515C=	XP_011515432.1:p.Gly4505=
XM_011517131.1:c.13431C=	XP_011515433.1:p.Gly4477=
XM_011517132.1:c.10146C=	XP_011515434.1:p.Gly3382=
XM_005250976.4:c.13926C=	XP_005251033.1:p.Gly4642=
XM_005250978.3:c.13527C=	XP_005251035.1:p.Gly4509=
XM_005250979.4:c.13515C=	XP_005251036.1:p.Gly4505=
XM_005250980.4:c.13515C=	XP_005251037.1:p.Gly4505=
XM_005250981.3:c.13473C=	XP_005251038.1:p.Gly4491=
XM_005250982.4:c.13449C=	XP_005251039.1:p.Gly4483=
XM_005250984.5:c.13419C=	XP_005251041.1:p.Gly4473=
XM_006716588.3:c.13596C=	XP_006716651.1:p.Gly4532=
XM_006716590.3:c.13446C=	XP_006716653.1:p.Gly4482=
XM_011517130.2:c.13515C=	XP_011515432.1:p.Gly4505=
XM_011517131.2:c.13431C=	XP_011515433.1:p.Gly4477=
XM_011517132.2:c.10146C=	XP_011515434.1:p.Gly3382=
NM_000445.5:c.13581C=	NP_000436.2:p.Gly4527=
NM_201378.4:c.13458C= MANE Plus Clinical	NP_958780.1:p.Gly4486=
NM_201379.3:c.13434C=	NP_958781.1:p.Gly4478=
NM_201380.4:c.13911C=	NP_958782.1:p.Gly4637=
NM_201381.3:c.13404C=	NP_958783.1:p.Gly4468=
NM_201382.4:c.13500C=	NP_958784.1:p.Gly4500=
NM_201383.3:c.13512C=	NP_958785.1:p.Gly4504=
NM_201384.3:c.13500C= MANE Select	NP_958786.1:p.Gly4500=