Canonical Allele Identifier: CA4924834

Gene: PLEC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143919981G>A , CM000670.2:g.143919981G>A	GRCh38
NC_000008.10:g.144994149G>A , CM000670.1:g.144994149G>A	GRCh37
NC_000008.9:g.145066137G>A	NCBI36
NG_012492.1:g.61765C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_201384.3:c.9840C>T MANE Select	NP_958786.1:p.Thr3280=
ENST00000345136.8:c.9840C>T MANE Select	ENSP00000344848.3:p.Thr3280=
NM_201378.4:c.9798C>T MANE Plus Clinical	NP_958780.1:p.Thr3266=
ENST00000356346.7:c.9798C>T MANE Plus Clinical	ENSP00000348702.3:p.Thr3266=
NM_000445.4:c.9921C>T	NP_000436.2:p.Thr3307=
NM_000445.5:c.9921C>T	NP_000436.2:p.Thr3307=
NM_201378.3:c.9798C>T	NP_958780.1:p.Thr3266=
NM_201379.2:c.9774C>T	NP_958781.1:p.Thr3258=
NM_201379.3:c.9774C>T	NP_958781.1:p.Thr3258=
NM_201380.3:c.10251C>T	NP_958782.1:p.Thr3417=
NM_201380.4:c.10251C>T	NP_958782.1:p.Thr3417=
NM_201381.2:c.9744C>T	NP_958783.1:p.Thr3248=
NM_201381.3:c.9744C>T	NP_958783.1:p.Thr3248=
NM_201382.3:c.9840C>T	NP_958784.1:p.Thr3280=
NM_201382.4:c.9840C>T	NP_958784.1:p.Thr3280=
NM_201383.2:c.9852C>T	NP_958785.1:p.Thr3284=
NM_201383.3:c.9852C>T	NP_958785.1:p.Thr3284=
NM_201384.2:c.9840C>T	NP_958786.1:p.Thr3280=
ENST00000322810.8:c.10251C>T	ENSP00000323856.4:p.Thr3417=
ENST00000345136.7:c.9840C>T	ENSP00000344848.3:p.Thr3280=
ENST00000354589.7:c.9840C>T	ENSP00000346602.3:p.Thr3280=
ENST00000354958.6:c.9774C>T	ENSP00000347044.2:p.Thr3258=
ENST00000357649.6:c.9852C>T	ENSP00000350277.2:p.Thr3284=
ENST00000398774.6:c.9744C>T	ENSP00000381756.2:p.Thr3248=
ENST00000436759.6:c.9921C>T	ENSP00000388180.2:p.Thr3307=
ENST00000527096.5:c.9909C>T	ENSP00000434583.1:p.Thr3303=
ENST00000527303.2:c.6540C>T	ENSP00000433982.2:p.Thr2180=
ENST00000528025.6:c.9972C>T	ENSP00000437303.2:p.Thr3324=
ENST00000685198.1:c.9891C>T	ENSP00000510528.1:p.Thr3297=
ENST00000687971.1:c.9558C>T	ENSP00000510788.1:p.Thr3186=
ENST00000693060.1:c.9771C>T	ENSP00000510329.1:p.Thr3257=
XM_005250976.2:c.10266C>T	XP_005251033.1:p.Thr3422=
XM_005250976.4:c.10266C>T	XP_005251033.1:p.Thr3422=
XM_005250978.2:c.9867C>T	XP_005251035.1:p.Thr3289=
XM_005250978.3:c.9867C>T	XP_005251035.1:p.Thr3289=
XM_005250979.3:c.9855C>T	XP_005251036.1:p.Thr3285=
XM_005250979.4:c.9855C>T	XP_005251036.1:p.Thr3285=
XM_005250980.3:c.9855C>T	XP_005251037.1:p.Thr3285=
XM_005250980.4:c.9855C>T	XP_005251037.1:p.Thr3285=
XM_005250981.2:c.9813C>T	XP_005251038.1:p.Thr3271=
XM_005250981.3:c.9813C>T	XP_005251038.1:p.Thr3271=
XM_005250982.2:c.9789C>T	XP_005251039.1:p.Thr3263=
XM_005250982.4:c.9789C>T	XP_005251039.1:p.Thr3263=
XM_005250983.2:c.9771C>T	XP_005251040.1:p.Thr3257=
XM_005250984.3:c.9759C>T	XP_005251041.1:p.Thr3253=
XM_005250984.5:c.9759C>T	XP_005251041.1:p.Thr3253=
XM_006716588.2:c.9936C>T	XP_006716651.1:p.Thr3312=
XM_006716588.3:c.9936C>T	XP_006716651.1:p.Thr3312=
XM_006716589.2:c.9786C>T	XP_006716652.1:p.Thr3262=
XM_006716590.2:c.9786C>T	XP_006716653.1:p.Thr3262=
XM_006716590.3:c.9786C>T	XP_006716653.1:p.Thr3262=
XM_011517130.1:c.9855C>T	XP_011515432.1:p.Thr3285=
XM_011517130.2:c.9855C>T	XP_011515432.1:p.Thr3285=
XM_011517131.1:c.9771C>T	XP_011515433.1:p.Thr3257=
XM_011517131.2:c.9771C>T	XP_011515433.1:p.Thr3257=
XM_011517132.1:c.6486C>T	XP_011515434.1:p.Thr2162=
XM_011517132.2:c.6486C>T	XP_011515434.1:p.Thr2162=