Canonical Allele Identifier: CA463526515

Gene: PLEC

Linked Data

• MyVariant Identifiers: chr8:g.144990612C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916444C>G , CM000670.2:g.143916444C>G	GRCh38
NC_000008.10:g.144990612C>G , CM000670.1:g.144990612C>G	GRCh37
NC_000008.9:g.145062600C>G	NCBI36
NG_012492.1:g.65302G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13509G>C	ENSP00000437303.2:p.Thr4503=
ENST00000685198.1:c.13428G>C	ENSP00000510528.1:p.Thr4476=
ENST00000687971.1:c.13095G>C	ENSP00000510788.1:p.Thr4365=
ENST00000693060.1:c.13308G>C	ENSP00000510329.1:p.Thr4436=
ENST00000345136.8:c.13377G>C MANE Select	ENSP00000344848.3:p.Thr4459=
ENST00000527303.2:c.10077G>C	ENSP00000433982.2:p.Thr3359=
ENST00000322810.8:c.13788G>C	ENSP00000323856.4:p.Thr4596=
ENST00000345136.7:c.13377G>C	ENSP00000344848.3:p.Thr4459=
ENST00000354589.7:c.13377G>C	ENSP00000346602.3:p.Thr4459=
ENST00000354958.6:c.13311G>C	ENSP00000347044.2:p.Thr4437=
ENST00000356346.7:c.13335G>C MANE Plus Clinical	ENSP00000348702.3:p.Thr4445=
ENST00000357649.6:c.13389G>C	ENSP00000350277.2:p.Thr4463=
ENST00000398774.6:c.13281G>C	ENSP00000381756.2:p.Thr4427=
ENST00000436759.6:c.13458G>C	ENSP00000388180.2:p.Thr4486=
ENST00000527096.5:c.13446G>C	ENSP00000434583.1:p.Thr4482=
NM_000445.4:c.13458G>C	NP_000436.2:p.Thr4486=
NM_201378.3:c.13335G>C	NP_958780.1:p.Thr4445=
NM_201379.2:c.13311G>C	NP_958781.1:p.Thr4437=
NM_201380.3:c.13788G>C	NP_958782.1:p.Thr4596=
NM_201381.2:c.13281G>C	NP_958783.1:p.Thr4427=
NM_201382.3:c.13377G>C	NP_958784.1:p.Thr4459=
NM_201383.2:c.13389G>C	NP_958785.1:p.Thr4463=
NM_201384.2:c.13377G>C	NP_958786.1:p.Thr4459=
XM_005250976.2:c.13803G>C	XP_005251033.1:p.Thr4601=
XM_005250978.2:c.13404G>C	XP_005251035.1:p.Thr4468=
XM_005250979.3:c.13392G>C	XP_005251036.1:p.Thr4464=
XM_005250980.3:c.13392G>C	XP_005251037.1:p.Thr4464=
XM_005250981.2:c.13350G>C	XP_005251038.1:p.Thr4450=
XM_005250982.2:c.13326G>C	XP_005251039.1:p.Thr4442=
XM_005250983.2:c.13308G>C	XP_005251040.1:p.Thr4436=
XM_005250984.3:c.13296G>C	XP_005251041.1:p.Thr4432=
XM_006716588.2:c.13473G>C	XP_006716651.1:p.Thr4491=
XM_006716589.2:c.13323G>C	XP_006716652.1:p.Thr4441=
XM_006716590.2:c.13323G>C	XP_006716653.1:p.Thr4441=
XM_011517130.1:c.13392G>C	XP_011515432.1:p.Thr4464=
XM_011517131.1:c.13308G>C	XP_011515433.1:p.Thr4436=
XM_011517132.1:c.10023G>C	XP_011515434.1:p.Thr3341=
XM_005250976.4:c.13803G>C	XP_005251033.1:p.Thr4601=
XM_005250978.3:c.13404G>C	XP_005251035.1:p.Thr4468=
XM_005250979.4:c.13392G>C	XP_005251036.1:p.Thr4464=
XM_005250980.4:c.13392G>C	XP_005251037.1:p.Thr4464=
XM_005250981.3:c.13350G>C	XP_005251038.1:p.Thr4450=
XM_005250982.4:c.13326G>C	XP_005251039.1:p.Thr4442=
XM_005250984.5:c.13296G>C	XP_005251041.1:p.Thr4432=
XM_006716588.3:c.13473G>C	XP_006716651.1:p.Thr4491=
XM_006716590.3:c.13323G>C	XP_006716653.1:p.Thr4441=
XM_011517130.2:c.13392G>C	XP_011515432.1:p.Thr4464=
XM_011517131.2:c.13308G>C	XP_011515433.1:p.Thr4436=
XM_011517132.2:c.10023G>C	XP_011515434.1:p.Thr3341=
NM_000445.5:c.13458G>C	NP_000436.2:p.Thr4486=
NM_201378.4:c.13335G>C MANE Plus Clinical	NP_958780.1:p.Thr4445=
NM_201379.3:c.13311G>C	NP_958781.1:p.Thr4437=
NM_201380.4:c.13788G>C	NP_958782.1:p.Thr4596=
NM_201381.3:c.13281G>C	NP_958783.1:p.Thr4427=
NM_201382.4:c.13377G>C	NP_958784.1:p.Thr4459=
NM_201383.3:c.13389G>C	NP_958785.1:p.Thr4463=
NM_201384.3:c.13377G>C MANE Select	NP_958786.1:p.Thr4459=