Canonical Allele Identifier: CA4928490

Gene: PLEC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143937158G>A , CM000670.2:g.143937158G>A	GRCh38
NC_000008.10:g.145011326G>A , CM000670.1:g.145011326G>A	GRCh37
NC_000008.9:g.145083314G>A	NCBI36
NG_012492.1:g.44588C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_201384.3:c.342+7C>T MANE Select	NP_958786.1:n.342+7C>T
ENST00000345136.8:c.342+7C>T MANE Select	ENSP00000344848.3:n.342+7C>T
NM_201378.4:c.300+7C>T MANE Plus Clinical	NP_958780.1:n.300+7C>T
ENST00000356346.7:c.300+7C>T MANE Plus Clinical	ENSP00000348702.3:n.300+7C>T
NM_000445.4:c.423+7C>T	NP_000436.2:n.423+7C>T
NM_000445.5:c.423+7C>T	NP_000436.2:n.423+7C>T
NM_201378.3:c.300+7C>T	NP_958780.1:n.300+7C>T
NM_201379.2:c.276+7C>T	NP_958781.1:n.276+7C>T
NM_201379.3:c.276+7C>T	NP_958781.1:n.276+7C>T
NM_201380.3:c.753+7C>T	NP_958782.1:n.753+7C>T
NM_201380.4:c.753+7C>T	NP_958782.1:n.753+7C>T
NM_201381.2:c.246+7C>T	NP_958783.1:n.246+7C>T
NM_201381.3:c.246+7C>T	NP_958783.1:n.246+7C>T
NM_201382.3:c.342+7C>T	NP_958784.1:n.342+7C>T
NM_201382.4:c.342+7C>T	NP_958784.1:n.342+7C>T
NM_201383.2:c.354+7C>T	NP_958785.1:n.354+7C>T
NM_201383.3:c.354+7C>T	NP_958785.1:n.354+7C>T
NM_201384.2:c.342+7C>T	NP_958786.1:n.342+7C>T
ENST00000322810.8:c.753+7C>T	ENSP00000323856.4:n.753+7C>T
ENST00000345136.7:c.342+7C>T	ENSP00000344848.3:n.342+7C>T
ENST00000354589.7:c.342+7C>T	ENSP00000346602.3:n.342+7C>T
ENST00000354958.6:c.276+7C>T	ENSP00000347044.2:n.276+7C>T
ENST00000357649.6:c.354+7C>T	ENSP00000350277.2:n.354+7C>T
ENST00000398774.6:c.246+7C>T	ENSP00000381756.2:n.246+7C>T
ENST00000436759.6:c.423+7C>T	ENSP00000388180.2:n.423+7C>T
ENST00000526416.5:c.273+7C>T	ENSP00000433557.1:n.273+7C>T
ENST00000527096.5:c.423+7C>T	ENSP00000434583.1:n.423+7C>T
ENST00000527303.2:c.423+7C>T	ENSP00000433982.2:n.423+7C>T
ENST00000527816.5:c.60+7C>T	ENSP00000434490.1:n.60+7C>T
ENST00000528025.5:c.474+7C>T	ENSP00000437303.1:n.474+7C>T
ENST00000528025.6:c.474+7C>T	ENSP00000437303.2:n.474+7C>T
ENST00000528131.1:c.393+7C>T	ENSP00000436702.1:n.393+7C>T
ENST00000685198.1:c.393+7C>T	ENSP00000510528.1:n.393+7C>T
ENST00000687971.1:c.60+7C>T	ENSP00000510788.1:n.60+7C>T
ENST00000693060.1:c.273+7C>T	ENSP00000510329.1:n.273+7C>T
XM_005250976.2:c.768+7C>T	XP_005251033.1:n.768+7C>T
XM_005250976.4:c.768+7C>T	XP_005251033.1:n.768+7C>T
XM_005250978.2:c.369+7C>T	XP_005251035.1:n.369+7C>T
XM_005250978.3:c.369+7C>T	XP_005251035.1:n.369+7C>T
XM_005250979.3:c.357+7C>T	XP_005251036.1:n.357+7C>T
XM_005250979.4:c.357+7C>T	XP_005251036.1:n.357+7C>T
XM_005250980.3:c.357+7C>T	XP_005251037.1:n.357+7C>T
XM_005250980.4:c.357+7C>T	XP_005251037.1:n.357+7C>T
XM_005250981.2:c.315+7C>T	XP_005251038.1:n.315+7C>T
XM_005250981.3:c.315+7C>T	XP_005251038.1:n.315+7C>T
XM_005250982.2:c.291+7C>T	XP_005251039.1:n.291+7C>T
XM_005250982.4:c.291+7C>T	XP_005251039.1:n.291+7C>T
XM_005250983.2:c.273+7C>T	XP_005251040.1:n.273+7C>T
XM_005250984.3:c.261+7C>T	XP_005251041.1:n.261+7C>T
XM_005250984.5:c.261+7C>T	XP_005251041.1:n.261+7C>T
XM_006716588.2:c.438+7C>T	XP_006716651.1:n.438+7C>T
XM_006716588.3:c.438+7C>T	XP_006716651.1:n.438+7C>T
XM_006716589.2:c.288+7C>T	XP_006716652.1:n.288+7C>T
XM_006716590.2:c.288+7C>T	XP_006716653.1:n.288+7C>T
XM_006716590.3:c.288+7C>T	XP_006716653.1:n.288+7C>T
XM_011517130.1:c.369+7C>T	XP_011515432.1:n.369+7C>T
XM_011517130.2:c.369+7C>T	XP_011515432.1:n.369+7C>T
XM_011517131.1:c.273+7C>T	XP_011515433.1:n.273+7C>T
XM_011517131.2:c.273+7C>T	XP_011515433.1:n.273+7C>T
XM_011517132.1:c.369+7C>T	XP_011515434.1:n.369+7C>T
XM_011517132.2:c.369+7C>T	XP_011515434.1:n.369+7C>T