Canonical Allele Identifier: CA4924763

Gene: PLEC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143919744G>A , CM000670.2:g.143919744G>A	GRCh38
NC_000008.10:g.144993912G>A , CM000670.1:g.144993912G>A	GRCh37
NC_000008.9:g.145065900G>A	NCBI36
NG_012492.1:g.62002C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_201384.3:c.10077C>T MANE Select	NP_958786.1:p.Gly3359=
ENST00000345136.8:c.10077C>T MANE Select	ENSP00000344848.3:p.Gly3359=
NM_201378.4:c.10035C>T MANE Plus Clinical	NP_958780.1:p.Gly3345=
ENST00000356346.7:c.10035C>T MANE Plus Clinical	ENSP00000348702.3:p.Gly3345=
NM_000445.4:c.10158C>T	NP_000436.2:p.Gly3386=
NM_000445.5:c.10158C>T	NP_000436.2:p.Gly3386=
NM_201378.3:c.10035C>T	NP_958780.1:p.Gly3345=
NM_201379.2:c.10011C>T	NP_958781.1:p.Gly3337=
NM_201379.3:c.10011C>T	NP_958781.1:p.Gly3337=
NM_201380.3:c.10488C>T	NP_958782.1:p.Gly3496=
NM_201380.4:c.10488C>T	NP_958782.1:p.Gly3496=
NM_201381.2:c.9981C>T	NP_958783.1:p.Gly3327=
NM_201381.3:c.9981C>T	NP_958783.1:p.Gly3327=
NM_201382.3:c.10077C>T	NP_958784.1:p.Gly3359=
NM_201382.4:c.10077C>T	NP_958784.1:p.Gly3359=
NM_201383.2:c.10089C>T	NP_958785.1:p.Gly3363=
NM_201383.3:c.10089C>T	NP_958785.1:p.Gly3363=
NM_201384.2:c.10077C>T	NP_958786.1:p.Gly3359=
ENST00000322810.8:c.10488C>T	ENSP00000323856.4:p.Gly3496=
ENST00000345136.7:c.10077C>T	ENSP00000344848.3:p.Gly3359=
ENST00000354589.7:c.10077C>T	ENSP00000346602.3:p.Gly3359=
ENST00000354958.6:c.10011C>T	ENSP00000347044.2:p.Gly3337=
ENST00000357649.6:c.10089C>T	ENSP00000350277.2:p.Gly3363=
ENST00000398774.6:c.9981C>T	ENSP00000381756.2:p.Gly3327=
ENST00000436759.6:c.10158C>T	ENSP00000388180.2:p.Gly3386=
ENST00000527096.5:c.10146C>T	ENSP00000434583.1:p.Gly3382=
ENST00000527303.2:c.6777C>T	ENSP00000433982.2:p.Gly2259=
ENST00000528025.6:c.10209C>T	ENSP00000437303.2:p.Gly3403=
ENST00000685198.1:c.10128C>T	ENSP00000510528.1:p.Gly3376=
ENST00000687971.1:c.9795C>T	ENSP00000510788.1:p.Gly3265=
ENST00000693060.1:c.10008C>T	ENSP00000510329.1:p.Gly3336=
XM_005250976.2:c.10503C>T	XP_005251033.1:p.Gly3501=
XM_005250976.4:c.10503C>T	XP_005251033.1:p.Gly3501=
XM_005250978.2:c.10104C>T	XP_005251035.1:p.Gly3368=
XM_005250978.3:c.10104C>T	XP_005251035.1:p.Gly3368=
XM_005250979.3:c.10092C>T	XP_005251036.1:p.Gly3364=
XM_005250979.4:c.10092C>T	XP_005251036.1:p.Gly3364=
XM_005250980.3:c.10092C>T	XP_005251037.1:p.Gly3364=
XM_005250980.4:c.10092C>T	XP_005251037.1:p.Gly3364=
XM_005250981.2:c.10050C>T	XP_005251038.1:p.Gly3350=
XM_005250981.3:c.10050C>T	XP_005251038.1:p.Gly3350=
XM_005250982.2:c.10026C>T	XP_005251039.1:p.Gly3342=
XM_005250982.4:c.10026C>T	XP_005251039.1:p.Gly3342=
XM_005250983.2:c.10008C>T	XP_005251040.1:p.Gly3336=
XM_005250984.3:c.9996C>T	XP_005251041.1:p.Gly3332=
XM_005250984.5:c.9996C>T	XP_005251041.1:p.Gly3332=
XM_006716588.2:c.10173C>T	XP_006716651.1:p.Gly3391=
XM_006716588.3:c.10173C>T	XP_006716651.1:p.Gly3391=
XM_006716589.2:c.10023C>T	XP_006716652.1:p.Gly3341=
XM_006716590.2:c.10023C>T	XP_006716653.1:p.Gly3341=
XM_006716590.3:c.10023C>T	XP_006716653.1:p.Gly3341=
XM_011517130.1:c.10092C>T	XP_011515432.1:p.Gly3364=
XM_011517130.2:c.10092C>T	XP_011515432.1:p.Gly3364=
XM_011517131.1:c.10008C>T	XP_011515433.1:p.Gly3336=
XM_011517131.2:c.10008C>T	XP_011515433.1:p.Gly3336=
XM_011517132.1:c.6723C>T	XP_011515434.1:p.Gly2241=
XM_011517132.2:c.6723C>T	XP_011515434.1:p.Gly2241=