Canonical Allele Identifier: CA372573726

Gene: PLEC

Linked Data

• MyVariant Identifiers: chr8:g.145004333T>G (hg19) ; chr8:g.143930165T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143930165T>G , CM000670.2:g.143930165T>G	GRCh38
NC_000008.10:g.145004333T>G , CM000670.1:g.145004333T>G	GRCh37
NC_000008.9:g.145076321T>G	NCBI36
NG_012492.1:g.51581A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.2723A>C	ENSP00000437303.2:p.Glu908Ala
ENST00000685198.1:c.2642A>C	ENSP00000510528.1:p.Glu881Ala
ENST00000687971.1:c.2309A>C	ENSP00000510788.1:p.Glu770Ala
ENST00000693060.1:c.2522A>C	ENSP00000510329.1:p.Glu841Ala
ENST00000345136.8:c.2591A>C MANE Select	ENSP00000344848.3:p.Glu864Ala
ENST00000527303.2:c.2672A>C	ENSP00000433982.2:p.Glu891Ala
ENST00000322810.8:c.3002A>C	ENSP00000323856.4:p.Glu1001Ala
ENST00000345136.7:c.2591A>C	ENSP00000344848.3:p.Glu864Ala
ENST00000354589.7:c.2591A>C	ENSP00000346602.3:p.Glu864Ala
ENST00000354958.6:c.2525A>C	ENSP00000347044.2:p.Glu842Ala
ENST00000356346.7:c.2549A>C MANE Plus Clinical	ENSP00000348702.3:p.Glu850Ala
ENST00000357649.6:c.2603A>C	ENSP00000350277.2:p.Glu868Ala
ENST00000398774.6:c.2495A>C	ENSP00000381756.2:p.Glu832Ala
ENST00000436759.6:c.2672A>C	ENSP00000388180.2:p.Glu891Ala
ENST00000527096.5:c.2660A>C	ENSP00000434583.1:p.Glu887Ala
NM_000445.4:c.2672A>C	NP_000436.2:p.Glu891Ala
NM_201378.3:c.2549A>C	NP_958780.1:p.Glu850Ala
NM_201379.2:c.2525A>C	NP_958781.1:p.Glu842Ala
NM_201380.3:c.3002A>C	NP_958782.1:p.Glu1001Ala
NM_201381.2:c.2495A>C	NP_958783.1:p.Glu832Ala
NM_201382.3:c.2591A>C	NP_958784.1:p.Glu864Ala
NM_201383.2:c.2603A>C	NP_958785.1:p.Glu868Ala
NM_201384.2:c.2591A>C	NP_958786.1:p.Glu864Ala
XM_005250976.2:c.3017A>C	XP_005251033.1:p.Glu1006Ala
XM_005250978.2:c.2618A>C	XP_005251035.1:p.Glu873Ala
XM_005250979.3:c.2606A>C	XP_005251036.1:p.Glu869Ala
XM_005250980.3:c.2606A>C	XP_005251037.1:p.Glu869Ala
XM_005250981.2:c.2564A>C	XP_005251038.1:p.Glu855Ala
XM_005250982.2:c.2540A>C	XP_005251039.1:p.Glu847Ala
XM_005250983.2:c.2522A>C	XP_005251040.1:p.Glu841Ala
XM_005250984.3:c.2510A>C	XP_005251041.1:p.Glu837Ala
XM_006716588.2:c.2687A>C	XP_006716651.1:p.Glu896Ala
XM_006716589.2:c.2537A>C	XP_006716652.1:p.Glu846Ala
XM_006716590.2:c.2537A>C	XP_006716653.1:p.Glu846Ala
XM_011517130.1:c.2606A>C	XP_011515432.1:p.Glu869Ala
XM_011517131.1:c.2522A>C	XP_011515433.1:p.Glu841Ala
XM_011517132.1:c.2618A>C	XP_011515434.1:p.Glu873Ala
XM_005250976.4:c.3017A>C	XP_005251033.1:p.Glu1006Ala
XM_005250978.3:c.2618A>C	XP_005251035.1:p.Glu873Ala
XM_005250979.4:c.2606A>C	XP_005251036.1:p.Glu869Ala
XM_005250980.4:c.2606A>C	XP_005251037.1:p.Glu869Ala
XM_005250981.3:c.2564A>C	XP_005251038.1:p.Glu855Ala
XM_005250982.4:c.2540A>C	XP_005251039.1:p.Glu847Ala
XM_005250984.5:c.2510A>C	XP_005251041.1:p.Glu837Ala
XM_006716588.3:c.2687A>C	XP_006716651.1:p.Glu896Ala
XM_006716590.3:c.2537A>C	XP_006716653.1:p.Glu846Ala
XM_011517130.2:c.2606A>C	XP_011515432.1:p.Glu869Ala
XM_011517131.2:c.2522A>C	XP_011515433.1:p.Glu841Ala
XM_011517132.2:c.2618A>C	XP_011515434.1:p.Glu873Ala
NM_000445.5:c.2672A>C	NP_000436.2:p.Glu891Ala
NM_201378.4:c.2549A>C MANE Plus Clinical	NP_958780.1:p.Glu850Ala
NM_201379.3:c.2525A>C	NP_958781.1:p.Glu842Ala
NM_201380.4:c.3002A>C	NP_958782.1:p.Glu1001Ala
NM_201381.3:c.2495A>C	NP_958783.1:p.Glu832Ala
NM_201382.4:c.2591A>C	NP_958784.1:p.Glu864Ala
NM_201383.3:c.2603A>C	NP_958785.1:p.Glu868Ala
NM_201384.3:c.2591A>C MANE Select	NP_958786.1:p.Glu864Ala