Canonical Allele Identifier: CA4925551

Gene: PLEC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143922154C>T , CM000670.2:g.143922154C>T	GRCh38
NC_000008.10:g.144996322C>T , CM000670.1:g.144996322C>T	GRCh37
NC_000008.9:g.145068310C>T	NCBI36
NG_012492.1:g.59592G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_201384.3:c.7667G>A MANE Select	NP_958786.1:p.Arg2556Gln
ENST00000345136.8:c.7667G>A MANE Select	ENSP00000344848.3:p.Arg2556Gln
NM_201378.4:c.7625G>A MANE Plus Clinical	NP_958780.1:p.Arg2542Gln
ENST00000356346.7:c.7625G>A MANE Plus Clinical	ENSP00000348702.3:p.Arg2542Gln
NM_000445.4:c.7748G>A	NP_000436.2:p.Arg2583Gln
NM_000445.5:c.7748G>A	NP_000436.2:p.Arg2583Gln
NM_201378.3:c.7625G>A	NP_958780.1:p.Arg2542Gln
NM_201379.2:c.7601G>A	NP_958781.1:p.Arg2534Gln
NM_201379.3:c.7601G>A	NP_958781.1:p.Arg2534Gln
NM_201380.3:c.8078G>A	NP_958782.1:p.Arg2693Gln
NM_201380.4:c.8078G>A	NP_958782.1:p.Arg2693Gln
NM_201381.2:c.7571G>A	NP_958783.1:p.Arg2524Gln
NM_201381.3:c.7571G>A	NP_958783.1:p.Arg2524Gln
NM_201382.3:c.7667G>A	NP_958784.1:p.Arg2556Gln
NM_201382.4:c.7667G>A	NP_958784.1:p.Arg2556Gln
NM_201383.2:c.7679G>A	NP_958785.1:p.Arg2560Gln
NM_201383.3:c.7679G>A	NP_958785.1:p.Arg2560Gln
NM_201384.2:c.7667G>A	NP_958786.1:p.Arg2556Gln
ENST00000322810.8:c.8078G>A	ENSP00000323856.4:p.Arg2693Gln
ENST00000345136.7:c.7667G>A	ENSP00000344848.3:p.Arg2556Gln
ENST00000354589.7:c.7667G>A	ENSP00000346602.3:p.Arg2556Gln
ENST00000354958.6:c.7601G>A	ENSP00000347044.2:p.Arg2534Gln
ENST00000357649.6:c.7679G>A	ENSP00000350277.2:p.Arg2560Gln
ENST00000398774.6:c.7571G>A	ENSP00000381756.2:p.Arg2524Gln
ENST00000436759.6:c.7748G>A	ENSP00000388180.2:p.Arg2583Gln
ENST00000527096.5:c.7736G>A	ENSP00000434583.1:p.Arg2579Gln
ENST00000527303.1:c.376G>A
ENST00000527303.2:c.4367G>A	ENSP00000433982.2:p.Arg1456Gln
ENST00000528025.6:c.7799G>A	ENSP00000437303.2:p.Arg2600Gln
ENST00000685198.1:c.7718G>A	ENSP00000510528.1:p.Arg2573Gln
ENST00000687971.1:c.7385G>A	ENSP00000510788.1:p.Arg2462Gln
ENST00000693060.1:c.7598G>A	ENSP00000510329.1:p.Arg2533Gln
XM_005250976.2:c.8093G>A	XP_005251033.1:p.Arg2698Gln
XM_005250976.4:c.8093G>A	XP_005251033.1:p.Arg2698Gln
XM_005250978.2:c.7694G>A	XP_005251035.1:p.Arg2565Gln
XM_005250978.3:c.7694G>A	XP_005251035.1:p.Arg2565Gln
XM_005250979.3:c.7682G>A	XP_005251036.1:p.Arg2561Gln
XM_005250979.4:c.7682G>A	XP_005251036.1:p.Arg2561Gln
XM_005250980.3:c.7682G>A	XP_005251037.1:p.Arg2561Gln
XM_005250980.4:c.7682G>A	XP_005251037.1:p.Arg2561Gln
XM_005250981.2:c.7640G>A	XP_005251038.1:p.Arg2547Gln
XM_005250981.3:c.7640G>A	XP_005251038.1:p.Arg2547Gln
XM_005250982.2:c.7616G>A	XP_005251039.1:p.Arg2539Gln
XM_005250982.4:c.7616G>A	XP_005251039.1:p.Arg2539Gln
XM_005250983.2:c.7598G>A	XP_005251040.1:p.Arg2533Gln
XM_005250984.3:c.7586G>A	XP_005251041.1:p.Arg2529Gln
XM_005250984.5:c.7586G>A	XP_005251041.1:p.Arg2529Gln
XM_006716588.2:c.7763G>A	XP_006716651.1:p.Arg2588Gln
XM_006716588.3:c.7763G>A	XP_006716651.1:p.Arg2588Gln
XM_006716589.2:c.7613G>A	XP_006716652.1:p.Arg2538Gln
XM_006716590.2:c.7613G>A	XP_006716653.1:p.Arg2538Gln
XM_006716590.3:c.7613G>A	XP_006716653.1:p.Arg2538Gln
XM_011517130.1:c.7682G>A	XP_011515432.1:p.Arg2561Gln
XM_011517130.2:c.7682G>A	XP_011515432.1:p.Arg2561Gln
XM_011517131.1:c.7598G>A	XP_011515433.1:p.Arg2533Gln
XM_011517131.2:c.7598G>A	XP_011515433.1:p.Arg2533Gln
XM_011517132.1:c.4313G>A	XP_011515434.1:p.Arg1438Gln
XM_011517132.2:c.4313G>A	XP_011515434.1:p.Arg1438Gln