Canonical Allele Identifier: CA4928091

Gene: PLEC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143934015C>T , CM000670.2:g.143934015C>T	GRCh38
NC_000008.10:g.145008183C>T , CM000670.1:g.145008183C>T	GRCh37
NC_000008.9:g.145080171C>T	NCBI36
NG_012492.1:g.47731G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_201384.3:c.1246G>A MANE Select	NP_958786.1:p.Asp416Asn
ENST00000345136.8:c.1246G>A MANE Select	ENSP00000344848.3:p.Asp416Asn
NM_201378.4:c.1204G>A MANE Plus Clinical	NP_958780.1:p.Asp402Asn
ENST00000356346.7:c.1204G>A MANE Plus Clinical	ENSP00000348702.3:p.Asp402Asn
NM_000445.4:c.1327G>A	NP_000436.2:p.Asp443Asn
NM_000445.5:c.1327G>A	NP_000436.2:p.Asp443Asn
NM_201378.3:c.1204G>A	NP_958780.1:p.Asp402Asn
NM_201379.2:c.1180G>A	NP_958781.1:p.Asp394Asn
NM_201379.3:c.1180G>A	NP_958781.1:p.Asp394Asn
NM_201380.3:c.1657G>A	NP_958782.1:p.Asp553Asn
NM_201380.4:c.1657G>A	NP_958782.1:p.Asp553Asn
NM_201381.2:c.1150G>A	NP_958783.1:p.Asp384Asn
NM_201381.3:c.1150G>A	NP_958783.1:p.Asp384Asn
NM_201382.3:c.1246G>A	NP_958784.1:p.Asp416Asn
NM_201382.4:c.1246G>A	NP_958784.1:p.Asp416Asn
NM_201383.2:c.1258G>A	NP_958785.1:p.Asp420Asn
NM_201383.3:c.1258G>A	NP_958785.1:p.Asp420Asn
NM_201384.2:c.1246G>A	NP_958786.1:p.Asp416Asn
ENST00000322810.8:c.1657G>A	ENSP00000323856.4:p.Asp553Asn
ENST00000345136.7:c.1246G>A	ENSP00000344848.3:p.Asp416Asn
ENST00000354589.7:c.1246G>A	ENSP00000346602.3:p.Asp416Asn
ENST00000354958.6:c.1180G>A	ENSP00000347044.2:p.Asp394Asn
ENST00000357649.6:c.1258G>A	ENSP00000350277.2:p.Asp420Asn
ENST00000398774.6:c.1150G>A	ENSP00000381756.2:p.Asp384Asn
ENST00000436759.6:c.1327G>A	ENSP00000388180.2:p.Asp443Asn
ENST00000527096.5:c.1315G>A	ENSP00000434583.1:p.Asp439Asn
ENST00000527303.2:c.1327G>A	ENSP00000433982.2:p.Asp443Asn
ENST00000528025.5:c.1378G>A	ENSP00000437303.1:p.Asp460Asn
ENST00000528025.6:c.1378G>A	ENSP00000437303.2:p.Asp460Asn
ENST00000685198.1:c.1297G>A	ENSP00000510528.1:p.Asp433Asn
ENST00000687971.1:c.964G>A	ENSP00000510788.1:p.Asp322Asn
ENST00000693060.1:c.1177G>A	ENSP00000510329.1:p.Asp393Asn
XM_005250976.2:c.1672G>A	XP_005251033.1:p.Asp558Asn
XM_005250976.4:c.1672G>A	XP_005251033.1:p.Asp558Asn
XM_005250978.2:c.1273G>A	XP_005251035.1:p.Asp425Asn
XM_005250978.3:c.1273G>A	XP_005251035.1:p.Asp425Asn
XM_005250979.3:c.1261G>A	XP_005251036.1:p.Asp421Asn
XM_005250979.4:c.1261G>A	XP_005251036.1:p.Asp421Asn
XM_005250980.3:c.1261G>A	XP_005251037.1:p.Asp421Asn
XM_005250980.4:c.1261G>A	XP_005251037.1:p.Asp421Asn
XM_005250981.2:c.1219G>A	XP_005251038.1:p.Asp407Asn
XM_005250981.3:c.1219G>A	XP_005251038.1:p.Asp407Asn
XM_005250982.2:c.1195G>A	XP_005251039.1:p.Asp399Asn
XM_005250982.4:c.1195G>A	XP_005251039.1:p.Asp399Asn
XM_005250983.2:c.1177G>A	XP_005251040.1:p.Asp393Asn
XM_005250984.3:c.1165G>A	XP_005251041.1:p.Asp389Asn
XM_005250984.5:c.1165G>A	XP_005251041.1:p.Asp389Asn
XM_006716588.2:c.1342G>A	XP_006716651.1:p.Asp448Asn
XM_006716588.3:c.1342G>A	XP_006716651.1:p.Asp448Asn
XM_006716589.2:c.1192G>A	XP_006716652.1:p.Asp398Asn
XM_006716590.2:c.1192G>A	XP_006716653.1:p.Asp398Asn
XM_006716590.3:c.1192G>A	XP_006716653.1:p.Asp398Asn
XM_011517130.1:c.1261G>A	XP_011515432.1:p.Asp421Asn
XM_011517130.2:c.1261G>A	XP_011515432.1:p.Asp421Asn
XM_011517131.1:c.1177G>A	XP_011515433.1:p.Asp393Asn
XM_011517131.2:c.1177G>A	XP_011515433.1:p.Asp393Asn
XM_011517132.1:c.1273G>A	XP_011515434.1:p.Asp425Asn
XM_011517132.2:c.1273G>A	XP_011515434.1:p.Asp425Asn