Canonical Allele Identifier: CA372507864

Gene: PLEC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143920235G>A , CM000670.2:g.143920235G>A	GRCh38
NC_000008.10:g.144994403G>A , CM000670.1:g.144994403G>A	GRCh37
NC_000008.9:g.145066391G>A	NCBI36
NG_012492.1:g.61511C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_201384.3:c.9586C>T MANE Select	NP_958786.1:p.Gln3196Ter
ENST00000345136.8:c.9586C>T MANE Select	ENSP00000344848.3:p.Gln3196Ter
NM_201378.4:c.9544C>T MANE Plus Clinical	NP_958780.1:p.Gln3182Ter
ENST00000356346.7:c.9544C>T MANE Plus Clinical	ENSP00000348702.3:p.Gln3182Ter
NM_000445.4:c.9667C>T	NP_000436.2:p.Gln3223Ter
NM_000445.5:c.9667C>T	NP_000436.2:p.Gln3223Ter
NM_201378.3:c.9544C>T	NP_958780.1:p.Gln3182Ter
NM_201379.2:c.9520C>T	NP_958781.1:p.Gln3174Ter
NM_201379.3:c.9520C>T	NP_958781.1:p.Gln3174Ter
NM_201380.3:c.9997C>T	NP_958782.1:p.Gln3333Ter
NM_201380.4:c.9997C>T	NP_958782.1:p.Gln3333Ter
NM_201381.2:c.9490C>T	NP_958783.1:p.Gln3164Ter
NM_201381.3:c.9490C>T	NP_958783.1:p.Gln3164Ter
NM_201382.3:c.9586C>T	NP_958784.1:p.Gln3196Ter
NM_201382.4:c.9586C>T	NP_958784.1:p.Gln3196Ter
NM_201383.2:c.9598C>T	NP_958785.1:p.Gln3200Ter
NM_201383.3:c.9598C>T	NP_958785.1:p.Gln3200Ter
NM_201384.2:c.9586C>T	NP_958786.1:p.Gln3196Ter
ENST00000322810.8:c.9997C>T	ENSP00000323856.4:p.Gln3333Ter
ENST00000345136.7:c.9586C>T	ENSP00000344848.3:p.Gln3196Ter
ENST00000354589.7:c.9586C>T	ENSP00000346602.3:p.Gln3196Ter
ENST00000354958.6:c.9520C>T	ENSP00000347044.2:p.Gln3174Ter
ENST00000357649.6:c.9598C>T	ENSP00000350277.2:p.Gln3200Ter
ENST00000398774.6:c.9490C>T	ENSP00000381756.2:p.Gln3164Ter
ENST00000436759.6:c.9667C>T	ENSP00000388180.2:p.Gln3223Ter
ENST00000527096.5:c.9655C>T	ENSP00000434583.1:p.Gln3219Ter
ENST00000527303.2:c.6286C>T	ENSP00000433982.2:p.Gln2096Ter
ENST00000528025.6:c.9718C>T	ENSP00000437303.2:p.Gln3240Ter
ENST00000685198.1:c.9637C>T	ENSP00000510528.1:p.Gln3213Ter
ENST00000687971.1:c.9304C>T	ENSP00000510788.1:p.Gln3102Ter
ENST00000693060.1:c.9517C>T	ENSP00000510329.1:p.Gln3173Ter
XM_005250976.2:c.10012C>T	XP_005251033.1:p.Gln3338Ter
XM_005250976.4:c.10012C>T	XP_005251033.1:p.Gln3338Ter
XM_005250978.2:c.9613C>T	XP_005251035.1:p.Gln3205Ter
XM_005250978.3:c.9613C>T	XP_005251035.1:p.Gln3205Ter
XM_005250979.3:c.9601C>T	XP_005251036.1:p.Gln3201Ter
XM_005250979.4:c.9601C>T	XP_005251036.1:p.Gln3201Ter
XM_005250980.3:c.9601C>T	XP_005251037.1:p.Gln3201Ter
XM_005250980.4:c.9601C>T	XP_005251037.1:p.Gln3201Ter
XM_005250981.2:c.9559C>T	XP_005251038.1:p.Gln3187Ter
XM_005250981.3:c.9559C>T	XP_005251038.1:p.Gln3187Ter
XM_005250982.2:c.9535C>T	XP_005251039.1:p.Gln3179Ter
XM_005250982.4:c.9535C>T	XP_005251039.1:p.Gln3179Ter
XM_005250983.2:c.9517C>T	XP_005251040.1:p.Gln3173Ter
XM_005250984.3:c.9505C>T	XP_005251041.1:p.Gln3169Ter
XM_005250984.5:c.9505C>T	XP_005251041.1:p.Gln3169Ter
XM_006716588.2:c.9682C>T	XP_006716651.1:p.Gln3228Ter
XM_006716588.3:c.9682C>T	XP_006716651.1:p.Gln3228Ter
XM_006716589.2:c.9532C>T	XP_006716652.1:p.Gln3178Ter
XM_006716590.2:c.9532C>T	XP_006716653.1:p.Gln3178Ter
XM_006716590.3:c.9532C>T	XP_006716653.1:p.Gln3178Ter
XM_011517130.1:c.9601C>T	XP_011515432.1:p.Gln3201Ter
XM_011517130.2:c.9601C>T	XP_011515432.1:p.Gln3201Ter
XM_011517131.1:c.9517C>T	XP_011515433.1:p.Gln3173Ter
XM_011517131.2:c.9517C>T	XP_011515433.1:p.Gln3173Ter
XM_011517132.1:c.6232C>T	XP_011515434.1:p.Gln2078Ter
XM_011517132.2:c.6232C>T	XP_011515434.1:p.Gln2078Ter