Canonical Allele Identifier: CA372474708

Gene: PLEC

Linked Data

• ClinVar Variation Id: 864678
• ClinVar RCV Id: RCV001071924
• dbSNP Id: rs1294742803
• gnomAD v2: 8-144990613-G-A
• gnomAD v3: 8-143916445-G-A
• gnomAD v4: 8-143916445-G-A
• MyVariant Identifiers: chr8:g.144990613G>A (hg19) ; chr8:g.143916445G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916445G>A , CM000670.2:g.143916445G>A	GRCh38
NC_000008.10:g.144990613G>A , CM000670.1:g.144990613G>A	GRCh37
NC_000008.9:g.145062601G>A	NCBI36
NG_012492.1:g.65301C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13508C>T	ENSP00000437303.2:p.Thr4503Met
ENST00000685198.1:c.13427C>T	ENSP00000510528.1:p.Thr4476Met
ENST00000687971.1:c.13094C>T	ENSP00000510788.1:p.Thr4365Met
ENST00000693060.1:c.13307C>T	ENSP00000510329.1:p.Thr4436Met
ENST00000345136.8:c.13376C>T MANE Select	ENSP00000344848.3:p.Thr4459Met
ENST00000527303.2:c.10076C>T	ENSP00000433982.2:p.Thr3359Met
ENST00000322810.8:c.13787C>T	ENSP00000323856.4:p.Thr4596Met
ENST00000345136.7:c.13376C>T	ENSP00000344848.3:p.Thr4459Met
ENST00000354589.7:c.13376C>T	ENSP00000346602.3:p.Thr4459Met
ENST00000354958.6:c.13310C>T	ENSP00000347044.2:p.Thr4437Met
ENST00000356346.7:c.13334C>T MANE Plus Clinical	ENSP00000348702.3:p.Thr4445Met
ENST00000357649.6:c.13388C>T	ENSP00000350277.2:p.Thr4463Met
ENST00000398774.6:c.13280C>T	ENSP00000381756.2:p.Thr4427Met
ENST00000436759.6:c.13457C>T	ENSP00000388180.2:p.Thr4486Met
ENST00000527096.5:c.13445C>T	ENSP00000434583.1:p.Thr4482Met
NM_000445.4:c.13457C>T	NP_000436.2:p.Thr4486Met
NM_201378.3:c.13334C>T	NP_958780.1:p.Thr4445Met
NM_201379.2:c.13310C>T	NP_958781.1:p.Thr4437Met
NM_201380.3:c.13787C>T	NP_958782.1:p.Thr4596Met
NM_201381.2:c.13280C>T	NP_958783.1:p.Thr4427Met
NM_201382.3:c.13376C>T	NP_958784.1:p.Thr4459Met
NM_201383.2:c.13388C>T	NP_958785.1:p.Thr4463Met
NM_201384.2:c.13376C>T	NP_958786.1:p.Thr4459Met
XM_005250976.2:c.13802C>T	XP_005251033.1:p.Thr4601Met
XM_005250978.2:c.13403C>T	XP_005251035.1:p.Thr4468Met
XM_005250979.3:c.13391C>T	XP_005251036.1:p.Thr4464Met
XM_005250980.3:c.13391C>T	XP_005251037.1:p.Thr4464Met
XM_005250981.2:c.13349C>T	XP_005251038.1:p.Thr4450Met
XM_005250982.2:c.13325C>T	XP_005251039.1:p.Thr4442Met
XM_005250983.2:c.13307C>T	XP_005251040.1:p.Thr4436Met
XM_005250984.3:c.13295C>T	XP_005251041.1:p.Thr4432Met
XM_006716588.2:c.13472C>T	XP_006716651.1:p.Thr4491Met
XM_006716589.2:c.13322C>T	XP_006716652.1:p.Thr4441Met
XM_006716590.2:c.13322C>T	XP_006716653.1:p.Thr4441Met
XM_011517130.1:c.13391C>T	XP_011515432.1:p.Thr4464Met
XM_011517131.1:c.13307C>T	XP_011515433.1:p.Thr4436Met
XM_011517132.1:c.10022C>T	XP_011515434.1:p.Thr3341Met
XM_005250976.4:c.13802C>T	XP_005251033.1:p.Thr4601Met
XM_005250978.3:c.13403C>T	XP_005251035.1:p.Thr4468Met
XM_005250979.4:c.13391C>T	XP_005251036.1:p.Thr4464Met
XM_005250980.4:c.13391C>T	XP_005251037.1:p.Thr4464Met
XM_005250981.3:c.13349C>T	XP_005251038.1:p.Thr4450Met
XM_005250982.4:c.13325C>T	XP_005251039.1:p.Thr4442Met
XM_005250984.5:c.13295C>T	XP_005251041.1:p.Thr4432Met
XM_006716588.3:c.13472C>T	XP_006716651.1:p.Thr4491Met
XM_006716590.3:c.13322C>T	XP_006716653.1:p.Thr4441Met
XM_011517130.2:c.13391C>T	XP_011515432.1:p.Thr4464Met
XM_011517131.2:c.13307C>T	XP_011515433.1:p.Thr4436Met
XM_011517132.2:c.10022C>T	XP_011515434.1:p.Thr3341Met
NM_000445.5:c.13457C>T	NP_000436.2:p.Thr4486Met
NM_201378.4:c.13334C>T MANE Plus Clinical	NP_958780.1:p.Thr4445Met
NM_201379.3:c.13310C>T	NP_958781.1:p.Thr4437Met
NM_201380.4:c.13787C>T	NP_958782.1:p.Thr4596Met
NM_201381.3:c.13280C>T	NP_958783.1:p.Thr4427Met
NM_201382.4:c.13376C>T	NP_958784.1:p.Thr4459Met
NM_201383.3:c.13388C>T	NP_958785.1:p.Thr4463Met
NM_201384.3:c.13376C>T MANE Select	NP_958786.1:p.Thr4459Met