Canonical Allele Identifier: CA372539537

Gene: PLEC

Linked Data

• MyVariant Identifiers: chr8:g.144998052T>G (hg19) ; chr8:g.143923884T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143923884T>G , CM000670.2:g.143923884T>G	GRCh38
NC_000008.10:g.144998052T>G , CM000670.1:g.144998052T>G	GRCh37
NC_000008.9:g.145070040T>G	NCBI36
NG_012492.1:g.57862A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.6177A>C	ENSP00000437303.2:p.Lys2059Asn
ENST00000685198.1:c.6096A>C	ENSP00000510528.1:p.Lys2032Asn
ENST00000687971.1:c.5763A>C	ENSP00000510788.1:p.Lys1921Asn
ENST00000693060.1:c.5976A>C	ENSP00000510329.1:p.Lys1992Asn
ENST00000345136.8:c.6045A>C MANE Select	ENSP00000344848.3:p.Lys2015Asn
ENST00000527303.2:c.4126-1489A>C	ENSP00000433982.2:n.4126-1489A>C
ENST00000322810.8:c.6456A>C	ENSP00000323856.4:p.Lys2152Asn
ENST00000345136.7:c.6045A>C	ENSP00000344848.3:p.Lys2015Asn
ENST00000354589.7:c.6045A>C	ENSP00000346602.3:p.Lys2015Asn
ENST00000354958.6:c.5979A>C	ENSP00000347044.2:p.Lys1993Asn
ENST00000356346.7:c.6003A>C MANE Plus Clinical	ENSP00000348702.3:p.Lys2001Asn
ENST00000357649.6:c.6057A>C	ENSP00000350277.2:p.Lys2019Asn
ENST00000398774.6:c.5949A>C	ENSP00000381756.2:p.Lys1983Asn
ENST00000436759.6:c.6126A>C	ENSP00000388180.2:p.Lys2042Asn
ENST00000527096.5:c.6114A>C	ENSP00000434583.1:p.Lys2038Asn
ENST00000527303.1:c.135-1489A>C
NM_000445.4:c.6126A>C	NP_000436.2:p.Lys2042Asn
NM_201378.3:c.6003A>C	NP_958780.1:p.Lys2001Asn
NM_201379.2:c.5979A>C	NP_958781.1:p.Lys1993Asn
NM_201380.3:c.6456A>C	NP_958782.1:p.Lys2152Asn
NM_201381.2:c.5949A>C	NP_958783.1:p.Lys1983Asn
NM_201382.3:c.6045A>C	NP_958784.1:p.Lys2015Asn
NM_201383.2:c.6057A>C	NP_958785.1:p.Lys2019Asn
NM_201384.2:c.6045A>C	NP_958786.1:p.Lys2015Asn
XM_005250976.2:c.6471A>C	XP_005251033.1:p.Lys2157Asn
XM_005250978.2:c.6072A>C	XP_005251035.1:p.Lys2024Asn
XM_005250979.3:c.6060A>C	XP_005251036.1:p.Lys2020Asn
XM_005250980.3:c.6060A>C	XP_005251037.1:p.Lys2020Asn
XM_005250981.2:c.6018A>C	XP_005251038.1:p.Lys2006Asn
XM_005250982.2:c.5994A>C	XP_005251039.1:p.Lys1998Asn
XM_005250983.2:c.5976A>C	XP_005251040.1:p.Lys1992Asn
XM_005250984.3:c.5964A>C	XP_005251041.1:p.Lys1988Asn
XM_006716588.2:c.6141A>C	XP_006716651.1:p.Lys2047Asn
XM_006716589.2:c.5991A>C	XP_006716652.1:p.Lys1997Asn
XM_006716590.2:c.5991A>C	XP_006716653.1:p.Lys1997Asn
XM_011517130.1:c.6060A>C	XP_011515432.1:p.Lys2020Asn
XM_011517131.1:c.5976A>C	XP_011515433.1:p.Lys1992Asn
XM_011517132.1:c.4072-1489A>C	XP_011515434.1:n.4072-1489A>C
XM_005250976.4:c.6471A>C	XP_005251033.1:p.Lys2157Asn
XM_005250978.3:c.6072A>C	XP_005251035.1:p.Lys2024Asn
XM_005250979.4:c.6060A>C	XP_005251036.1:p.Lys2020Asn
XM_005250980.4:c.6060A>C	XP_005251037.1:p.Lys2020Asn
XM_005250981.3:c.6018A>C	XP_005251038.1:p.Lys2006Asn
XM_005250982.4:c.5994A>C	XP_005251039.1:p.Lys1998Asn
XM_005250984.5:c.5964A>C	XP_005251041.1:p.Lys1988Asn
XM_006716588.3:c.6141A>C	XP_006716651.1:p.Lys2047Asn
XM_006716590.3:c.5991A>C	XP_006716653.1:p.Lys1997Asn
XM_011517130.2:c.6060A>C	XP_011515432.1:p.Lys2020Asn
XM_011517131.2:c.5976A>C	XP_011515433.1:p.Lys1992Asn
XM_011517132.2:c.4072-1489A>C	XP_011515434.1:n.4072-1489A>C
NM_000445.5:c.6126A>C	NP_000436.2:p.Lys2042Asn
NM_201378.4:c.6003A>C MANE Plus Clinical	NP_958780.1:p.Lys2001Asn
NM_201379.3:c.5979A>C	NP_958781.1:p.Lys1993Asn
NM_201380.4:c.6456A>C	NP_958782.1:p.Lys2152Asn
NM_201381.3:c.5949A>C	NP_958783.1:p.Lys1983Asn
NM_201382.4:c.6045A>C	NP_958784.1:p.Lys2015Asn
NM_201383.3:c.6057A>C	NP_958785.1:p.Lys2019Asn
NM_201384.3:c.6045A>C MANE Select	NP_958786.1:p.Lys2015Asn