Canonical Allele Identifier: CA372474389

Gene: PLEC

Linked Data

• gnomAD v4: 8-143916368-A-C
• MyVariant Identifiers: chr8:g.144990536A>C (hg19) ; chr8:g.143916368A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916368A>C , CM000670.2:g.143916368A>C	GRCh38
NC_000008.10:g.144990536A>C , CM000670.1:g.144990536A>C	GRCh37
NC_000008.9:g.145062524A>C	NCBI36
NG_012492.1:g.65378T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13585T>G	ENSP00000437303.2:p.Ser4529Ala
ENST00000685198.1:c.13504T>G	ENSP00000510528.1:p.Ser4502Ala
ENST00000687971.1:c.13171T>G	ENSP00000510788.1:p.Ser4391Ala
ENST00000693060.1:c.13384T>G	ENSP00000510329.1:p.Ser4462Ala
ENST00000345136.8:c.13453T>G MANE Select	ENSP00000344848.3:p.Ser4485Ala
ENST00000527303.2:c.10153T>G	ENSP00000433982.2:p.Ser3385Ala
ENST00000322810.8:c.13864T>G	ENSP00000323856.4:p.Ser4622Ala
ENST00000345136.7:c.13453T>G	ENSP00000344848.3:p.Ser4485Ala
ENST00000354589.7:c.13453T>G	ENSP00000346602.3:p.Ser4485Ala
ENST00000354958.6:c.13387T>G	ENSP00000347044.2:p.Ser4463Ala
ENST00000356346.7:c.13411T>G MANE Plus Clinical	ENSP00000348702.3:p.Ser4471Ala
ENST00000357649.6:c.13465T>G	ENSP00000350277.2:p.Ser4489Ala
ENST00000398774.6:c.13357T>G	ENSP00000381756.2:p.Ser4453Ala
ENST00000436759.6:c.13534T>G	ENSP00000388180.2:p.Ser4512Ala
ENST00000527096.5:c.13522T>G	ENSP00000434583.1:p.Ser4508Ala
NM_000445.4:c.13534T>G	NP_000436.2:p.Ser4512Ala
NM_201378.3:c.13411T>G	NP_958780.1:p.Ser4471Ala
NM_201379.2:c.13387T>G	NP_958781.1:p.Ser4463Ala
NM_201380.3:c.13864T>G	NP_958782.1:p.Ser4622Ala
NM_201381.2:c.13357T>G	NP_958783.1:p.Ser4453Ala
NM_201382.3:c.13453T>G	NP_958784.1:p.Ser4485Ala
NM_201383.2:c.13465T>G	NP_958785.1:p.Ser4489Ala
NM_201384.2:c.13453T>G	NP_958786.1:p.Ser4485Ala
XM_005250976.2:c.13879T>G	XP_005251033.1:p.Ser4627Ala
XM_005250978.2:c.13480T>G	XP_005251035.1:p.Ser4494Ala
XM_005250979.3:c.13468T>G	XP_005251036.1:p.Ser4490Ala
XM_005250980.3:c.13468T>G	XP_005251037.1:p.Ser4490Ala
XM_005250981.2:c.13426T>G	XP_005251038.1:p.Ser4476Ala
XM_005250982.2:c.13402T>G	XP_005251039.1:p.Ser4468Ala
XM_005250983.2:c.13384T>G	XP_005251040.1:p.Ser4462Ala
XM_005250984.3:c.13372T>G	XP_005251041.1:p.Ser4458Ala
XM_006716588.2:c.13549T>G	XP_006716651.1:p.Ser4517Ala
XM_006716589.2:c.13399T>G	XP_006716652.1:p.Ser4467Ala
XM_006716590.2:c.13399T>G	XP_006716653.1:p.Ser4467Ala
XM_011517130.1:c.13468T>G	XP_011515432.1:p.Ser4490Ala
XM_011517131.1:c.13384T>G	XP_011515433.1:p.Ser4462Ala
XM_011517132.1:c.10099T>G	XP_011515434.1:p.Ser3367Ala
XM_005250976.4:c.13879T>G	XP_005251033.1:p.Ser4627Ala
XM_005250978.3:c.13480T>G	XP_005251035.1:p.Ser4494Ala
XM_005250979.4:c.13468T>G	XP_005251036.1:p.Ser4490Ala
XM_005250980.4:c.13468T>G	XP_005251037.1:p.Ser4490Ala
XM_005250981.3:c.13426T>G	XP_005251038.1:p.Ser4476Ala
XM_005250982.4:c.13402T>G	XP_005251039.1:p.Ser4468Ala
XM_005250984.5:c.13372T>G	XP_005251041.1:p.Ser4458Ala
XM_006716588.3:c.13549T>G	XP_006716651.1:p.Ser4517Ala
XM_006716590.3:c.13399T>G	XP_006716653.1:p.Ser4467Ala
XM_011517130.2:c.13468T>G	XP_011515432.1:p.Ser4490Ala
XM_011517131.2:c.13384T>G	XP_011515433.1:p.Ser4462Ala
XM_011517132.2:c.10099T>G	XP_011515434.1:p.Ser3367Ala
NM_000445.5:c.13534T>G	NP_000436.2:p.Ser4512Ala
NM_201378.4:c.13411T>G MANE Plus Clinical	NP_958780.1:p.Ser4471Ala
NM_201379.3:c.13387T>G	NP_958781.1:p.Ser4463Ala
NM_201380.4:c.13864T>G	NP_958782.1:p.Ser4622Ala
NM_201381.3:c.13357T>G	NP_958783.1:p.Ser4453Ala
NM_201382.4:c.13453T>G	NP_958784.1:p.Ser4485Ala
NM_201383.3:c.13465T>G	NP_958785.1:p.Ser4489Ala
NM_201384.3:c.13453T>G MANE Select	NP_958786.1:p.Ser4485Ala