Canonical Allele Identifier: CA4926193

Gene: PLEC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143924009G>C , CM000670.2:g.143924009G>C	GRCh38
NC_000008.10:g.144998177G>C , CM000670.1:g.144998177G>C	GRCh37
NC_000008.9:g.145070165G>C	NCBI36
NG_012492.1:g.57737C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_201384.3:c.5920C>G MANE Select	NP_958786.1:p.Gln1974Glu
ENST00000345136.8:c.5920C>G MANE Select	ENSP00000344848.3:p.Gln1974Glu
NM_201378.4:c.5878C>G MANE Plus Clinical	NP_958780.1:p.Gln1960Glu
ENST00000356346.7:c.5878C>G MANE Plus Clinical	ENSP00000348702.3:p.Gln1960Glu
NM_000445.4:c.6001C>G	NP_000436.2:p.Gln2001Glu
NM_000445.5:c.6001C>G	NP_000436.2:p.Gln2001Glu
NM_201378.3:c.5878C>G	NP_958780.1:p.Gln1960Glu
NM_201379.2:c.5854C>G	NP_958781.1:p.Gln1952Glu
NM_201379.3:c.5854C>G	NP_958781.1:p.Gln1952Glu
NM_201380.3:c.6331C>G	NP_958782.1:p.Gln2111Glu
NM_201380.4:c.6331C>G	NP_958782.1:p.Gln2111Glu
NM_201381.2:c.5824C>G	NP_958783.1:p.Gln1942Glu
NM_201381.3:c.5824C>G	NP_958783.1:p.Gln1942Glu
NM_201382.3:c.5920C>G	NP_958784.1:p.Gln1974Glu
NM_201382.4:c.5920C>G	NP_958784.1:p.Gln1974Glu
NM_201383.2:c.5932C>G	NP_958785.1:p.Gln1978Glu
NM_201383.3:c.5932C>G	NP_958785.1:p.Gln1978Glu
NM_201384.2:c.5920C>G	NP_958786.1:p.Gln1974Glu
ENST00000322810.8:c.6331C>G	ENSP00000323856.4:p.Gln2111Glu
ENST00000345136.7:c.5920C>G	ENSP00000344848.3:p.Gln1974Glu
ENST00000354589.7:c.5920C>G	ENSP00000346602.3:p.Gln1974Glu
ENST00000354958.6:c.5854C>G	ENSP00000347044.2:p.Gln1952Glu
ENST00000357649.6:c.5932C>G	ENSP00000350277.2:p.Gln1978Glu
ENST00000398774.6:c.5824C>G	ENSP00000381756.2:p.Gln1942Glu
ENST00000436759.6:c.6001C>G	ENSP00000388180.2:p.Gln2001Glu
ENST00000527096.5:c.5989C>G	ENSP00000434583.1:p.Gln1997Glu
ENST00000527303.1:c.135-1614C>G
ENST00000527303.2:c.4126-1614C>G	ENSP00000433982.2:n.4126-1614C>G
ENST00000528025.6:c.6052C>G	ENSP00000437303.2:p.Gln2018Glu
ENST00000685198.1:c.5971C>G	ENSP00000510528.1:p.Gln1991Glu
ENST00000687971.1:c.5638C>G	ENSP00000510788.1:p.Gln1880Glu
ENST00000693060.1:c.5851C>G	ENSP00000510329.1:p.Gln1951Glu
XM_005250976.2:c.6346C>G	XP_005251033.1:p.Gln2116Glu
XM_005250976.4:c.6346C>G	XP_005251033.1:p.Gln2116Glu
XM_005250978.2:c.5947C>G	XP_005251035.1:p.Gln1983Glu
XM_005250978.3:c.5947C>G	XP_005251035.1:p.Gln1983Glu
XM_005250979.3:c.5935C>G	XP_005251036.1:p.Gln1979Glu
XM_005250979.4:c.5935C>G	XP_005251036.1:p.Gln1979Glu
XM_005250980.3:c.5935C>G	XP_005251037.1:p.Gln1979Glu
XM_005250980.4:c.5935C>G	XP_005251037.1:p.Gln1979Glu
XM_005250981.2:c.5893C>G	XP_005251038.1:p.Gln1965Glu
XM_005250981.3:c.5893C>G	XP_005251038.1:p.Gln1965Glu
XM_005250982.2:c.5869C>G	XP_005251039.1:p.Gln1957Glu
XM_005250982.4:c.5869C>G	XP_005251039.1:p.Gln1957Glu
XM_005250983.2:c.5851C>G	XP_005251040.1:p.Gln1951Glu
XM_005250984.3:c.5839C>G	XP_005251041.1:p.Gln1947Glu
XM_005250984.5:c.5839C>G	XP_005251041.1:p.Gln1947Glu
XM_006716588.2:c.6016C>G	XP_006716651.1:p.Gln2006Glu
XM_006716588.3:c.6016C>G	XP_006716651.1:p.Gln2006Glu
XM_006716589.2:c.5866C>G	XP_006716652.1:p.Gln1956Glu
XM_006716590.2:c.5866C>G	XP_006716653.1:p.Gln1956Glu
XM_006716590.3:c.5866C>G	XP_006716653.1:p.Gln1956Glu
XM_011517130.1:c.5935C>G	XP_011515432.1:p.Gln1979Glu
XM_011517130.2:c.5935C>G	XP_011515432.1:p.Gln1979Glu
XM_011517131.1:c.5851C>G	XP_011515433.1:p.Gln1951Glu
XM_011517131.2:c.5851C>G	XP_011515433.1:p.Gln1951Glu
XM_011517132.1:c.4072-1614C>G	XP_011515434.1:n.4072-1614C>G
XM_011517132.2:c.4072-1614C>G	XP_011515434.1:n.4072-1614C>G