Canonical Allele Identifier: CA4926929

Gene: PLEC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143927306G>A , CM000670.2:g.143927306G>A	GRCh38
NC_000008.10:g.145001474G>A , CM000670.1:g.145001474G>A	GRCh37
NC_000008.9:g.145073462G>A	NCBI36
NG_012492.1:g.54440C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_201384.3:c.3786C>T MANE Select	NP_958786.1:p.Gly1262=
ENST00000345136.8:c.3786C>T MANE Select	ENSP00000344848.3:p.Gly1262=
NM_201378.4:c.3744C>T MANE Plus Clinical	NP_958780.1:p.Gly1248=
ENST00000356346.7:c.3744C>T MANE Plus Clinical	ENSP00000348702.3:p.Gly1248=
NM_000445.4:c.3867C>T	NP_000436.2:p.Gly1289=
NM_000445.5:c.3867C>T	NP_000436.2:p.Gly1289=
NM_201378.3:c.3744C>T	NP_958780.1:p.Gly1248=
NM_201379.2:c.3720C>T	NP_958781.1:p.Gly1240=
NM_201379.3:c.3720C>T	NP_958781.1:p.Gly1240=
NM_201380.3:c.4197C>T	NP_958782.1:p.Gly1399=
NM_201380.4:c.4197C>T	NP_958782.1:p.Gly1399=
NM_201381.2:c.3690C>T	NP_958783.1:p.Gly1230=
NM_201381.3:c.3690C>T	NP_958783.1:p.Gly1230=
NM_201382.3:c.3786C>T	NP_958784.1:p.Gly1262=
NM_201382.4:c.3786C>T	NP_958784.1:p.Gly1262=
NM_201383.2:c.3798C>T	NP_958785.1:p.Gly1266=
NM_201383.3:c.3798C>T	NP_958785.1:p.Gly1266=
NM_201384.2:c.3786C>T	NP_958786.1:p.Gly1262=
ENST00000322810.8:c.4197C>T	ENSP00000323856.4:p.Gly1399=
ENST00000345136.7:c.3786C>T	ENSP00000344848.3:p.Gly1262=
ENST00000354589.7:c.3786C>T	ENSP00000346602.3:p.Gly1262=
ENST00000354958.6:c.3720C>T	ENSP00000347044.2:p.Gly1240=
ENST00000357649.6:c.3798C>T	ENSP00000350277.2:p.Gly1266=
ENST00000398774.6:c.3690C>T	ENSP00000381756.2:p.Gly1230=
ENST00000436759.6:c.3867C>T	ENSP00000388180.2:p.Gly1289=
ENST00000527096.5:c.3855C>T	ENSP00000434583.1:p.Gly1285=
ENST00000527303.2:c.3867C>T	ENSP00000433982.2:p.Gly1289=
ENST00000528025.6:c.3918C>T	ENSP00000437303.2:p.Gly1306=
ENST00000685198.1:c.3837C>T	ENSP00000510528.1:p.Gly1279=
ENST00000687971.1:c.3504C>T	ENSP00000510788.1:p.Gly1168=
ENST00000693060.1:c.3717C>T	ENSP00000510329.1:p.Gly1239=
XM_005250976.2:c.4212C>T	XP_005251033.1:p.Gly1404=
XM_005250976.4:c.4212C>T	XP_005251033.1:p.Gly1404=
XM_005250978.2:c.3813C>T	XP_005251035.1:p.Gly1271=
XM_005250978.3:c.3813C>T	XP_005251035.1:p.Gly1271=
XM_005250979.3:c.3801C>T	XP_005251036.1:p.Gly1267=
XM_005250979.4:c.3801C>T	XP_005251036.1:p.Gly1267=
XM_005250980.3:c.3801C>T	XP_005251037.1:p.Gly1267=
XM_005250980.4:c.3801C>T	XP_005251037.1:p.Gly1267=
XM_005250981.2:c.3759C>T	XP_005251038.1:p.Gly1253=
XM_005250981.3:c.3759C>T	XP_005251038.1:p.Gly1253=
XM_005250982.2:c.3735C>T	XP_005251039.1:p.Gly1245=
XM_005250982.4:c.3735C>T	XP_005251039.1:p.Gly1245=
XM_005250983.2:c.3717C>T	XP_005251040.1:p.Gly1239=
XM_005250984.3:c.3705C>T	XP_005251041.1:p.Gly1235=
XM_005250984.5:c.3705C>T	XP_005251041.1:p.Gly1235=
XM_006716588.2:c.3882C>T	XP_006716651.1:p.Gly1294=
XM_006716588.3:c.3882C>T	XP_006716651.1:p.Gly1294=
XM_006716589.2:c.3732C>T	XP_006716652.1:p.Gly1244=
XM_006716590.2:c.3732C>T	XP_006716653.1:p.Gly1244=
XM_006716590.3:c.3732C>T	XP_006716653.1:p.Gly1244=
XM_011517130.1:c.3801C>T	XP_011515432.1:p.Gly1267=
XM_011517130.2:c.3801C>T	XP_011515432.1:p.Gly1267=
XM_011517131.1:c.3717C>T	XP_011515433.1:p.Gly1239=
XM_011517131.2:c.3717C>T	XP_011515433.1:p.Gly1239=
XM_011517132.1:c.3813C>T	XP_011515434.1:p.Gly1271=
XM_011517132.2:c.3813C>T	XP_011515434.1:p.Gly1271=