Canonical Allele Identifier: CA463536156

Gene: PLEC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143930263C>A , CM000670.2:g.143930263C>A	GRCh38
NC_000008.10:g.145004431C>A , CM000670.1:g.145004431C>A	GRCh37
NC_000008.9:g.145076419C>A	NCBI36
NG_012492.1:g.51483G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_201384.3:c.2493G>T MANE Select	NP_958786.1:p.Val831=
ENST00000345136.8:c.2493G>T MANE Select	ENSP00000344848.3:p.Val831=
NM_201378.4:c.2451G>T MANE Plus Clinical	NP_958780.1:p.Val817=
ENST00000356346.7:c.2451G>T MANE Plus Clinical	ENSP00000348702.3:p.Val817=
NM_000445.4:c.2574G>T	NP_000436.2:p.Val858=
NM_000445.5:c.2574G>T	NP_000436.2:p.Val858=
NM_201378.3:c.2451G>T	NP_958780.1:p.Val817=
NM_201379.2:c.2427G>T	NP_958781.1:p.Val809=
NM_201379.3:c.2427G>T	NP_958781.1:p.Val809=
NM_201380.3:c.2904G>T	NP_958782.1:p.Val968=
NM_201380.4:c.2904G>T	NP_958782.1:p.Val968=
NM_201381.2:c.2397G>T	NP_958783.1:p.Val799=
NM_201381.3:c.2397G>T	NP_958783.1:p.Val799=
NM_201382.3:c.2493G>T	NP_958784.1:p.Val831=
NM_201382.4:c.2493G>T	NP_958784.1:p.Val831=
NM_201383.2:c.2505G>T	NP_958785.1:p.Val835=
NM_201383.3:c.2505G>T	NP_958785.1:p.Val835=
NM_201384.2:c.2493G>T	NP_958786.1:p.Val831=
ENST00000322810.8:c.2904G>T	ENSP00000323856.4:p.Val968=
ENST00000345136.7:c.2493G>T	ENSP00000344848.3:p.Val831=
ENST00000354589.7:c.2493G>T	ENSP00000346602.3:p.Val831=
ENST00000354958.6:c.2427G>T	ENSP00000347044.2:p.Val809=
ENST00000357649.6:c.2505G>T	ENSP00000350277.2:p.Val835=
ENST00000398774.6:c.2397G>T	ENSP00000381756.2:p.Val799=
ENST00000436759.6:c.2574G>T	ENSP00000388180.2:p.Val858=
ENST00000527096.5:c.2562G>T	ENSP00000434583.1:p.Val854=
ENST00000527303.2:c.2574G>T	ENSP00000433982.2:p.Val858=
ENST00000528025.6:c.2625G>T	ENSP00000437303.2:p.Val875=
ENST00000685198.1:c.2544G>T	ENSP00000510528.1:p.Val848=
ENST00000687971.1:c.2211G>T	ENSP00000510788.1:p.Val737=
ENST00000693060.1:c.2424G>T	ENSP00000510329.1:p.Val808=
XM_005250976.2:c.2919G>T	XP_005251033.1:p.Val973=
XM_005250976.4:c.2919G>T	XP_005251033.1:p.Val973=
XM_005250978.2:c.2520G>T	XP_005251035.1:p.Val840=
XM_005250978.3:c.2520G>T	XP_005251035.1:p.Val840=
XM_005250979.3:c.2508G>T	XP_005251036.1:p.Val836=
XM_005250979.4:c.2508G>T	XP_005251036.1:p.Val836=
XM_005250980.3:c.2508G>T	XP_005251037.1:p.Val836=
XM_005250980.4:c.2508G>T	XP_005251037.1:p.Val836=
XM_005250981.2:c.2466G>T	XP_005251038.1:p.Val822=
XM_005250981.3:c.2466G>T	XP_005251038.1:p.Val822=
XM_005250982.2:c.2442G>T	XP_005251039.1:p.Val814=
XM_005250982.4:c.2442G>T	XP_005251039.1:p.Val814=
XM_005250983.2:c.2424G>T	XP_005251040.1:p.Val808=
XM_005250984.3:c.2412G>T	XP_005251041.1:p.Val804=
XM_005250984.5:c.2412G>T	XP_005251041.1:p.Val804=
XM_006716588.2:c.2589G>T	XP_006716651.1:p.Val863=
XM_006716588.3:c.2589G>T	XP_006716651.1:p.Val863=
XM_006716589.2:c.2439G>T	XP_006716652.1:p.Val813=
XM_006716590.2:c.2439G>T	XP_006716653.1:p.Val813=
XM_006716590.3:c.2439G>T	XP_006716653.1:p.Val813=
XM_011517130.1:c.2508G>T	XP_011515432.1:p.Val836=
XM_011517130.2:c.2508G>T	XP_011515432.1:p.Val836=
XM_011517131.1:c.2424G>T	XP_011515433.1:p.Val808=
XM_011517131.2:c.2424G>T	XP_011515433.1:p.Val808=
XM_011517132.1:c.2520G>T	XP_011515434.1:p.Val840=
XM_011517132.2:c.2520G>T	XP_011515434.1:p.Val840=