Canonical Allele Identifier: CA463433705

Gene: PLEC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143929258C>A , CM000670.2:g.143929258C>A	GRCh38
NC_000008.10:g.145003426C>A , CM000670.1:g.145003426C>A	GRCh37
NC_000008.9:g.145075414C>A	NCBI36
NG_012492.1:g.52488G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_201384.3:c.3105G>T MANE Select	NP_958786.1:p.Gly1035=
ENST00000345136.8:c.3105G>T MANE Select	ENSP00000344848.3:p.Gly1035=
NM_201378.4:c.3063G>T MANE Plus Clinical	NP_958780.1:p.Gly1021=
ENST00000356346.7:c.3063G>T MANE Plus Clinical	ENSP00000348702.3:p.Gly1021=
NM_000445.4:c.3186G>T	NP_000436.2:p.Gly1062=
NM_000445.5:c.3186G>T	NP_000436.2:p.Gly1062=
NM_201378.3:c.3063G>T	NP_958780.1:p.Gly1021=
NM_201379.2:c.3039G>T	NP_958781.1:p.Gly1013=
NM_201379.3:c.3039G>T	NP_958781.1:p.Gly1013=
NM_201380.3:c.3516G>T	NP_958782.1:p.Gly1172=
NM_201380.4:c.3516G>T	NP_958782.1:p.Gly1172=
NM_201381.2:c.3009G>T	NP_958783.1:p.Gly1003=
NM_201381.3:c.3009G>T	NP_958783.1:p.Gly1003=
NM_201382.3:c.3105G>T	NP_958784.1:p.Gly1035=
NM_201382.4:c.3105G>T	NP_958784.1:p.Gly1035=
NM_201383.2:c.3117G>T	NP_958785.1:p.Gly1039=
NM_201383.3:c.3117G>T	NP_958785.1:p.Gly1039=
NM_201384.2:c.3105G>T	NP_958786.1:p.Gly1035=
ENST00000322810.8:c.3516G>T	ENSP00000323856.4:p.Gly1172=
ENST00000345136.7:c.3105G>T	ENSP00000344848.3:p.Gly1035=
ENST00000354589.7:c.3105G>T	ENSP00000346602.3:p.Gly1035=
ENST00000354958.6:c.3039G>T	ENSP00000347044.2:p.Gly1013=
ENST00000357649.6:c.3117G>T	ENSP00000350277.2:p.Gly1039=
ENST00000398774.6:c.3009G>T	ENSP00000381756.2:p.Gly1003=
ENST00000436759.6:c.3186G>T	ENSP00000388180.2:p.Gly1062=
ENST00000527096.5:c.3174G>T	ENSP00000434583.1:p.Gly1058=
ENST00000527303.2:c.3186G>T	ENSP00000433982.2:p.Gly1062=
ENST00000528025.6:c.3237G>T	ENSP00000437303.2:p.Gly1079=
ENST00000685198.1:c.3156G>T	ENSP00000510528.1:p.Gly1052=
ENST00000687971.1:c.2823G>T	ENSP00000510788.1:p.Gly941=
ENST00000693060.1:c.3036G>T	ENSP00000510329.1:p.Gly1012=
XM_005250976.2:c.3531G>T	XP_005251033.1:p.Gly1177=
XM_005250976.4:c.3531G>T	XP_005251033.1:p.Gly1177=
XM_005250978.2:c.3132G>T	XP_005251035.1:p.Gly1044=
XM_005250978.3:c.3132G>T	XP_005251035.1:p.Gly1044=
XM_005250979.3:c.3120G>T	XP_005251036.1:p.Gly1040=
XM_005250979.4:c.3120G>T	XP_005251036.1:p.Gly1040=
XM_005250980.3:c.3120G>T	XP_005251037.1:p.Gly1040=
XM_005250980.4:c.3120G>T	XP_005251037.1:p.Gly1040=
XM_005250981.2:c.3078G>T	XP_005251038.1:p.Gly1026=
XM_005250981.3:c.3078G>T	XP_005251038.1:p.Gly1026=
XM_005250982.2:c.3054G>T	XP_005251039.1:p.Gly1018=
XM_005250982.4:c.3054G>T	XP_005251039.1:p.Gly1018=
XM_005250983.2:c.3036G>T	XP_005251040.1:p.Gly1012=
XM_005250984.3:c.3024G>T	XP_005251041.1:p.Gly1008=
XM_005250984.5:c.3024G>T	XP_005251041.1:p.Gly1008=
XM_006716588.2:c.3201G>T	XP_006716651.1:p.Gly1067=
XM_006716588.3:c.3201G>T	XP_006716651.1:p.Gly1067=
XM_006716589.2:c.3051G>T	XP_006716652.1:p.Gly1017=
XM_006716590.2:c.3051G>T	XP_006716653.1:p.Gly1017=
XM_006716590.3:c.3051G>T	XP_006716653.1:p.Gly1017=
XM_011517130.1:c.3120G>T	XP_011515432.1:p.Gly1040=
XM_011517130.2:c.3120G>T	XP_011515432.1:p.Gly1040=
XM_011517131.1:c.3036G>T	XP_011515433.1:p.Gly1012=
XM_011517131.2:c.3036G>T	XP_011515433.1:p.Gly1012=
XM_011517132.1:c.3132G>T	XP_011515434.1:p.Gly1044=
XM_011517132.2:c.3132G>T	XP_011515434.1:p.Gly1044=