Canonical Allele Identifier: CA372526194

Gene: PLEC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143922611G>A , CM000670.2:g.143922611G>A	GRCh38
NC_000008.10:g.144996779G>A , CM000670.1:g.144996779G>A	GRCh37
NC_000008.9:g.145068767G>A	NCBI36
NG_012492.1:g.59135C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_201384.3:c.7318C>T MANE Select	NP_958786.1:p.Gln2440Ter
ENST00000345136.8:c.7318C>T MANE Select	ENSP00000344848.3:p.Gln2440Ter
NM_201378.4:c.7276C>T MANE Plus Clinical	NP_958780.1:p.Gln2426Ter
ENST00000356346.7:c.7276C>T MANE Plus Clinical	ENSP00000348702.3:p.Gln2426Ter
NM_000445.4:c.7399C>T	NP_000436.2:p.Gln2467Ter
NM_000445.5:c.7399C>T	NP_000436.2:p.Gln2467Ter
NM_201378.3:c.7276C>T	NP_958780.1:p.Gln2426Ter
NM_201379.2:c.7252C>T	NP_958781.1:p.Gln2418Ter
NM_201379.3:c.7252C>T	NP_958781.1:p.Gln2418Ter
NM_201380.3:c.7729C>T	NP_958782.1:p.Gln2577Ter
NM_201380.4:c.7729C>T	NP_958782.1:p.Gln2577Ter
NM_201381.2:c.7222C>T	NP_958783.1:p.Gln2408Ter
NM_201381.3:c.7222C>T	NP_958783.1:p.Gln2408Ter
NM_201382.3:c.7318C>T	NP_958784.1:p.Gln2440Ter
NM_201382.4:c.7318C>T	NP_958784.1:p.Gln2440Ter
NM_201383.2:c.7330C>T	NP_958785.1:p.Gln2444Ter
NM_201383.3:c.7330C>T	NP_958785.1:p.Gln2444Ter
NM_201384.2:c.7318C>T	NP_958786.1:p.Gln2440Ter
ENST00000322810.8:c.7729C>T	ENSP00000323856.4:p.Gln2577Ter
ENST00000345136.7:c.7318C>T	ENSP00000344848.3:p.Gln2440Ter
ENST00000354589.7:c.7318C>T	ENSP00000346602.3:p.Gln2440Ter
ENST00000354958.6:c.7252C>T	ENSP00000347044.2:p.Gln2418Ter
ENST00000357649.6:c.7330C>T	ENSP00000350277.2:p.Gln2444Ter
ENST00000398774.6:c.7222C>T	ENSP00000381756.2:p.Gln2408Ter
ENST00000436759.6:c.7399C>T	ENSP00000388180.2:p.Gln2467Ter
ENST00000527096.5:c.7387C>T	ENSP00000434583.1:p.Gln2463Ter
ENST00000527303.1:c.135-216C>T
ENST00000527303.2:c.4126-216C>T	ENSP00000433982.2:n.4126-216C>T
ENST00000528025.6:c.7450C>T	ENSP00000437303.2:p.Gln2484Ter
ENST00000685198.1:c.7369C>T	ENSP00000510528.1:p.Gln2457Ter
ENST00000687971.1:c.7036C>T	ENSP00000510788.1:p.Gln2346Ter
ENST00000693060.1:c.7249C>T	ENSP00000510329.1:p.Gln2417Ter
XM_005250976.2:c.7744C>T	XP_005251033.1:p.Gln2582Ter
XM_005250976.4:c.7744C>T	XP_005251033.1:p.Gln2582Ter
XM_005250978.2:c.7345C>T	XP_005251035.1:p.Gln2449Ter
XM_005250978.3:c.7345C>T	XP_005251035.1:p.Gln2449Ter
XM_005250979.3:c.7333C>T	XP_005251036.1:p.Gln2445Ter
XM_005250979.4:c.7333C>T	XP_005251036.1:p.Gln2445Ter
XM_005250980.3:c.7333C>T	XP_005251037.1:p.Gln2445Ter
XM_005250980.4:c.7333C>T	XP_005251037.1:p.Gln2445Ter
XM_005250981.2:c.7291C>T	XP_005251038.1:p.Gln2431Ter
XM_005250981.3:c.7291C>T	XP_005251038.1:p.Gln2431Ter
XM_005250982.2:c.7267C>T	XP_005251039.1:p.Gln2423Ter
XM_005250982.4:c.7267C>T	XP_005251039.1:p.Gln2423Ter
XM_005250983.2:c.7249C>T	XP_005251040.1:p.Gln2417Ter
XM_005250984.3:c.7237C>T	XP_005251041.1:p.Gln2413Ter
XM_005250984.5:c.7237C>T	XP_005251041.1:p.Gln2413Ter
XM_006716588.2:c.7414C>T	XP_006716651.1:p.Gln2472Ter
XM_006716588.3:c.7414C>T	XP_006716651.1:p.Gln2472Ter
XM_006716589.2:c.7264C>T	XP_006716652.1:p.Gln2422Ter
XM_006716590.2:c.7264C>T	XP_006716653.1:p.Gln2422Ter
XM_006716590.3:c.7264C>T	XP_006716653.1:p.Gln2422Ter
XM_011517130.1:c.7333C>T	XP_011515432.1:p.Gln2445Ter
XM_011517130.2:c.7333C>T	XP_011515432.1:p.Gln2445Ter
XM_011517131.1:c.7249C>T	XP_011515433.1:p.Gln2417Ter
XM_011517131.2:c.7249C>T	XP_011515433.1:p.Gln2417Ter
XM_011517132.1:c.4072-216C>T	XP_011515434.1:n.4072-216C>T
XM_011517132.2:c.4072-216C>T	XP_011515434.1:n.4072-216C>T