Canonical Allele Identifier: CA4925337

Gene: PLEC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143921437C>T , CM000670.2:g.143921437C>T	GRCh38
NC_000008.10:g.144995605C>T , CM000670.1:g.144995605C>T	GRCh37
NC_000008.9:g.145067593C>T	NCBI36
NG_012492.1:g.60309G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_201384.3:c.8384G>A MANE Select	NP_958786.1:p.Gly2795Asp
ENST00000345136.8:c.8384G>A MANE Select	ENSP00000344848.3:p.Gly2795Asp
NM_201378.4:c.8342G>A MANE Plus Clinical	NP_958780.1:p.Gly2781Asp
ENST00000356346.7:c.8342G>A MANE Plus Clinical	ENSP00000348702.3:p.Gly2781Asp
NM_000445.4:c.8465G>A	NP_000436.2:p.Gly2822Asp
NM_000445.5:c.8465G>A	NP_000436.2:p.Gly2822Asp
NM_201378.3:c.8342G>A	NP_958780.1:p.Gly2781Asp
NM_201379.2:c.8318G>A	NP_958781.1:p.Gly2773Asp
NM_201379.3:c.8318G>A	NP_958781.1:p.Gly2773Asp
NM_201380.3:c.8795G>A	NP_958782.1:p.Gly2932Asp
NM_201380.4:c.8795G>A	NP_958782.1:p.Gly2932Asp
NM_201381.2:c.8288G>A	NP_958783.1:p.Gly2763Asp
NM_201381.3:c.8288G>A	NP_958783.1:p.Gly2763Asp
NM_201382.3:c.8384G>A	NP_958784.1:p.Gly2795Asp
NM_201382.4:c.8384G>A	NP_958784.1:p.Gly2795Asp
NM_201383.2:c.8396G>A	NP_958785.1:p.Gly2799Asp
NM_201383.3:c.8396G>A	NP_958785.1:p.Gly2799Asp
NM_201384.2:c.8384G>A	NP_958786.1:p.Gly2795Asp
ENST00000322810.8:c.8795G>A	ENSP00000323856.4:p.Gly2932Asp
ENST00000345136.7:c.8384G>A	ENSP00000344848.3:p.Gly2795Asp
ENST00000354589.7:c.8384G>A	ENSP00000346602.3:p.Gly2795Asp
ENST00000354958.6:c.8318G>A	ENSP00000347044.2:p.Gly2773Asp
ENST00000357649.6:c.8396G>A	ENSP00000350277.2:p.Gly2799Asp
ENST00000398774.6:c.8288G>A	ENSP00000381756.2:p.Gly2763Asp
ENST00000436759.6:c.8465G>A	ENSP00000388180.2:p.Gly2822Asp
ENST00000527096.5:c.8453G>A	ENSP00000434583.1:p.Gly2818Asp
ENST00000527303.2:c.5084G>A	ENSP00000433982.2:p.Gly1695Asp
ENST00000528025.6:c.8516G>A	ENSP00000437303.2:p.Gly2839Asp
ENST00000685198.1:c.8435G>A	ENSP00000510528.1:p.Gly2812Asp
ENST00000687971.1:c.8102G>A	ENSP00000510788.1:p.Gly2701Asp
ENST00000693060.1:c.8315G>A	ENSP00000510329.1:p.Gly2772Asp
XM_005250976.2:c.8810G>A	XP_005251033.1:p.Gly2937Asp
XM_005250976.4:c.8810G>A	XP_005251033.1:p.Gly2937Asp
XM_005250978.2:c.8411G>A	XP_005251035.1:p.Gly2804Asp
XM_005250978.3:c.8411G>A	XP_005251035.1:p.Gly2804Asp
XM_005250979.3:c.8399G>A	XP_005251036.1:p.Gly2800Asp
XM_005250979.4:c.8399G>A	XP_005251036.1:p.Gly2800Asp
XM_005250980.3:c.8399G>A	XP_005251037.1:p.Gly2800Asp
XM_005250980.4:c.8399G>A	XP_005251037.1:p.Gly2800Asp
XM_005250981.2:c.8357G>A	XP_005251038.1:p.Gly2786Asp
XM_005250981.3:c.8357G>A	XP_005251038.1:p.Gly2786Asp
XM_005250982.2:c.8333G>A	XP_005251039.1:p.Gly2778Asp
XM_005250982.4:c.8333G>A	XP_005251039.1:p.Gly2778Asp
XM_005250983.2:c.8315G>A	XP_005251040.1:p.Gly2772Asp
XM_005250984.3:c.8303G>A	XP_005251041.1:p.Gly2768Asp
XM_005250984.5:c.8303G>A	XP_005251041.1:p.Gly2768Asp
XM_006716588.2:c.8480G>A	XP_006716651.1:p.Gly2827Asp
XM_006716588.3:c.8480G>A	XP_006716651.1:p.Gly2827Asp
XM_006716589.2:c.8330G>A	XP_006716652.1:p.Gly2777Asp
XM_006716590.2:c.8330G>A	XP_006716653.1:p.Gly2777Asp
XM_006716590.3:c.8330G>A	XP_006716653.1:p.Gly2777Asp
XM_011517130.1:c.8399G>A	XP_011515432.1:p.Gly2800Asp
XM_011517130.2:c.8399G>A	XP_011515432.1:p.Gly2800Asp
XM_011517131.1:c.8315G>A	XP_011515433.1:p.Gly2772Asp
XM_011517131.2:c.8315G>A	XP_011515433.1:p.Gly2772Asp
XM_011517132.1:c.5030G>A	XP_011515434.1:p.Gly1677Asp
XM_011517132.2:c.5030G>A	XP_011515434.1:p.Gly1677Asp