Canonical Allele Identifier: CA372474680

Gene: PLEC

Linked Data

• dbSNP Id: rs2130790496
• gnomAD v3: 8-143916439-A-T
• gnomAD v4: 8-143916439-A-T
• MyVariant Identifiers: chr8:g.144990607A>T (hg19) ; chr8:g.143916439A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916439A>T , CM000670.2:g.143916439A>T	GRCh38
NC_000008.10:g.144990607A>T , CM000670.1:g.144990607A>T	GRCh37
NC_000008.9:g.145062595A>T	NCBI36
NG_012492.1:g.65307T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13514T>A	ENSP00000437303.2:p.Leu4505Gln
ENST00000685198.1:c.13433T>A	ENSP00000510528.1:p.Leu4478Gln
ENST00000687971.1:c.13100T>A	ENSP00000510788.1:p.Leu4367Gln
ENST00000693060.1:c.13313T>A	ENSP00000510329.1:p.Leu4438Gln
ENST00000345136.8:c.13382T>A MANE Select	ENSP00000344848.3:p.Leu4461Gln
ENST00000527303.2:c.10082T>A	ENSP00000433982.2:p.Leu3361Gln
ENST00000322810.8:c.13793T>A	ENSP00000323856.4:p.Leu4598Gln
ENST00000345136.7:c.13382T>A	ENSP00000344848.3:p.Leu4461Gln
ENST00000354589.7:c.13382T>A	ENSP00000346602.3:p.Leu4461Gln
ENST00000354958.6:c.13316T>A	ENSP00000347044.2:p.Leu4439Gln
ENST00000356346.7:c.13340T>A MANE Plus Clinical	ENSP00000348702.3:p.Leu4447Gln
ENST00000357649.6:c.13394T>A	ENSP00000350277.2:p.Leu4465Gln
ENST00000398774.6:c.13286T>A	ENSP00000381756.2:p.Leu4429Gln
ENST00000436759.6:c.13463T>A	ENSP00000388180.2:p.Leu4488Gln
ENST00000527096.5:c.13451T>A	ENSP00000434583.1:p.Leu4484Gln
NM_000445.4:c.13463T>A	NP_000436.2:p.Leu4488Gln
NM_201378.3:c.13340T>A	NP_958780.1:p.Leu4447Gln
NM_201379.2:c.13316T>A	NP_958781.1:p.Leu4439Gln
NM_201380.3:c.13793T>A	NP_958782.1:p.Leu4598Gln
NM_201381.2:c.13286T>A	NP_958783.1:p.Leu4429Gln
NM_201382.3:c.13382T>A	NP_958784.1:p.Leu4461Gln
NM_201383.2:c.13394T>A	NP_958785.1:p.Leu4465Gln
NM_201384.2:c.13382T>A	NP_958786.1:p.Leu4461Gln
XM_005250976.2:c.13808T>A	XP_005251033.1:p.Leu4603Gln
XM_005250978.2:c.13409T>A	XP_005251035.1:p.Leu4470Gln
XM_005250979.3:c.13397T>A	XP_005251036.1:p.Leu4466Gln
XM_005250980.3:c.13397T>A	XP_005251037.1:p.Leu4466Gln
XM_005250981.2:c.13355T>A	XP_005251038.1:p.Leu4452Gln
XM_005250982.2:c.13331T>A	XP_005251039.1:p.Leu4444Gln
XM_005250983.2:c.13313T>A	XP_005251040.1:p.Leu4438Gln
XM_005250984.3:c.13301T>A	XP_005251041.1:p.Leu4434Gln
XM_006716588.2:c.13478T>A	XP_006716651.1:p.Leu4493Gln
XM_006716589.2:c.13328T>A	XP_006716652.1:p.Leu4443Gln
XM_006716590.2:c.13328T>A	XP_006716653.1:p.Leu4443Gln
XM_011517130.1:c.13397T>A	XP_011515432.1:p.Leu4466Gln
XM_011517131.1:c.13313T>A	XP_011515433.1:p.Leu4438Gln
XM_011517132.1:c.10028T>A	XP_011515434.1:p.Leu3343Gln
XM_005250976.4:c.13808T>A	XP_005251033.1:p.Leu4603Gln
XM_005250978.3:c.13409T>A	XP_005251035.1:p.Leu4470Gln
XM_005250979.4:c.13397T>A	XP_005251036.1:p.Leu4466Gln
XM_005250980.4:c.13397T>A	XP_005251037.1:p.Leu4466Gln
XM_005250981.3:c.13355T>A	XP_005251038.1:p.Leu4452Gln
XM_005250982.4:c.13331T>A	XP_005251039.1:p.Leu4444Gln
XM_005250984.5:c.13301T>A	XP_005251041.1:p.Leu4434Gln
XM_006716588.3:c.13478T>A	XP_006716651.1:p.Leu4493Gln
XM_006716590.3:c.13328T>A	XP_006716653.1:p.Leu4443Gln
XM_011517130.2:c.13397T>A	XP_011515432.1:p.Leu4466Gln
XM_011517131.2:c.13313T>A	XP_011515433.1:p.Leu4438Gln
XM_011517132.2:c.10028T>A	XP_011515434.1:p.Leu3343Gln
NM_000445.5:c.13463T>A	NP_000436.2:p.Leu4488Gln
NM_201378.4:c.13340T>A MANE Plus Clinical	NP_958780.1:p.Leu4447Gln
NM_201379.3:c.13316T>A	NP_958781.1:p.Leu4439Gln
NM_201380.4:c.13793T>A	NP_958782.1:p.Leu4598Gln
NM_201381.3:c.13286T>A	NP_958783.1:p.Leu4429Gln
NM_201382.4:c.13382T>A	NP_958784.1:p.Leu4461Gln
NM_201383.3:c.13394T>A	NP_958785.1:p.Leu4465Gln
NM_201384.3:c.13382T>A MANE Select	NP_958786.1:p.Leu4461Gln