Canonical Allele Identifier: CA372475618

Gene: PLEC

Linked Data

• gnomAD v4: 8-143916485-A-C
• MyVariant Identifiers: chr8:g.144990653A>C (hg19) ; chr8:g.143916485A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916485A>C , CM000670.2:g.143916485A>C	GRCh38
NC_000008.10:g.144990653A>C , CM000670.1:g.144990653A>C	GRCh37
NC_000008.9:g.145062641A>C	NCBI36
NG_012492.1:g.65261T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13468T>G	ENSP00000437303.2:p.Tyr4490Asp
ENST00000685198.1:c.13387T>G	ENSP00000510528.1:p.Tyr4463Asp
ENST00000687971.1:c.13054T>G	ENSP00000510788.1:p.Tyr4352Asp
ENST00000693060.1:c.13267T>G	ENSP00000510329.1:p.Tyr4423Asp
ENST00000345136.8:c.13336T>G MANE Select	ENSP00000344848.3:p.Tyr4446Asp
ENST00000527303.2:c.10036T>G	ENSP00000433982.2:p.Tyr3346Asp
ENST00000322810.8:c.13747T>G	ENSP00000323856.4:p.Tyr4583Asp
ENST00000345136.7:c.13336T>G	ENSP00000344848.3:p.Tyr4446Asp
ENST00000354589.7:c.13336T>G	ENSP00000346602.3:p.Tyr4446Asp
ENST00000354958.6:c.13270T>G	ENSP00000347044.2:p.Tyr4424Asp
ENST00000356346.7:c.13294T>G MANE Plus Clinical	ENSP00000348702.3:p.Tyr4432Asp
ENST00000357649.6:c.13348T>G	ENSP00000350277.2:p.Tyr4450Asp
ENST00000398774.6:c.13240T>G	ENSP00000381756.2:p.Tyr4414Asp
ENST00000436759.6:c.13417T>G	ENSP00000388180.2:p.Tyr4473Asp
ENST00000527096.5:c.13405T>G	ENSP00000434583.1:p.Tyr4469Asp
NM_000445.4:c.13417T>G	NP_000436.2:p.Tyr4473Asp
NM_201378.3:c.13294T>G	NP_958780.1:p.Tyr4432Asp
NM_201379.2:c.13270T>G	NP_958781.1:p.Tyr4424Asp
NM_201380.3:c.13747T>G	NP_958782.1:p.Tyr4583Asp
NM_201381.2:c.13240T>G	NP_958783.1:p.Tyr4414Asp
NM_201382.3:c.13336T>G	NP_958784.1:p.Tyr4446Asp
NM_201383.2:c.13348T>G	NP_958785.1:p.Tyr4450Asp
NM_201384.2:c.13336T>G	NP_958786.1:p.Tyr4446Asp
XM_005250976.2:c.13762T>G	XP_005251033.1:p.Tyr4588Asp
XM_005250978.2:c.13363T>G	XP_005251035.1:p.Tyr4455Asp
XM_005250979.3:c.13351T>G	XP_005251036.1:p.Tyr4451Asp
XM_005250980.3:c.13351T>G	XP_005251037.1:p.Tyr4451Asp
XM_005250981.2:c.13309T>G	XP_005251038.1:p.Tyr4437Asp
XM_005250982.2:c.13285T>G	XP_005251039.1:p.Tyr4429Asp
XM_005250983.2:c.13267T>G	XP_005251040.1:p.Tyr4423Asp
XM_005250984.3:c.13255T>G	XP_005251041.1:p.Tyr4419Asp
XM_006716588.2:c.13432T>G	XP_006716651.1:p.Tyr4478Asp
XM_006716589.2:c.13282T>G	XP_006716652.1:p.Tyr4428Asp
XM_006716590.2:c.13282T>G	XP_006716653.1:p.Tyr4428Asp
XM_011517130.1:c.13351T>G	XP_011515432.1:p.Tyr4451Asp
XM_011517131.1:c.13267T>G	XP_011515433.1:p.Tyr4423Asp
XM_011517132.1:c.9982T>G	XP_011515434.1:p.Tyr3328Asp
XM_005250976.4:c.13762T>G	XP_005251033.1:p.Tyr4588Asp
XM_005250978.3:c.13363T>G	XP_005251035.1:p.Tyr4455Asp
XM_005250979.4:c.13351T>G	XP_005251036.1:p.Tyr4451Asp
XM_005250980.4:c.13351T>G	XP_005251037.1:p.Tyr4451Asp
XM_005250981.3:c.13309T>G	XP_005251038.1:p.Tyr4437Asp
XM_005250982.4:c.13285T>G	XP_005251039.1:p.Tyr4429Asp
XM_005250984.5:c.13255T>G	XP_005251041.1:p.Tyr4419Asp
XM_006716588.3:c.13432T>G	XP_006716651.1:p.Tyr4478Asp
XM_006716590.3:c.13282T>G	XP_006716653.1:p.Tyr4428Asp
XM_011517130.2:c.13351T>G	XP_011515432.1:p.Tyr4451Asp
XM_011517131.2:c.13267T>G	XP_011515433.1:p.Tyr4423Asp
XM_011517132.2:c.9982T>G	XP_011515434.1:p.Tyr3328Asp
NM_000445.5:c.13417T>G	NP_000436.2:p.Tyr4473Asp
NM_201378.4:c.13294T>G MANE Plus Clinical	NP_958780.1:p.Tyr4432Asp
NM_201379.3:c.13270T>G	NP_958781.1:p.Tyr4424Asp
NM_201380.4:c.13747T>G	NP_958782.1:p.Tyr4583Asp
NM_201381.3:c.13240T>G	NP_958783.1:p.Tyr4414Asp
NM_201382.4:c.13336T>G	NP_958784.1:p.Tyr4446Asp
NM_201383.3:c.13348T>G	NP_958785.1:p.Tyr4450Asp
NM_201384.3:c.13336T>G MANE Select	NP_958786.1:p.Tyr4446Asp