Canonical Allele Identifier: CA4928556

Gene: PLEC

Linked Data

• ClinVar Variation Id: 506895
• ClinVar RCV Id: RCV000609020 ; RCV001247469
• dbSNP Id: rs369467661
• ExAC: 8:145012315 G / A
• gnomAD v2: 8-145012315-G-A
• gnomAD v3: 8-143938147-G-A
• gnomAD v4: 8-143938147-G-A
• MyVariant Identifiers: chr8:g.145012315G>A (hg19) ; chr8:g.143938147G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143938147G>A , CM000670.2:g.143938147G>A	GRCh38
NC_000008.10:g.145012315G>A , CM000670.1:g.145012315G>A	GRCh37
NC_000008.9:g.145084303G>A	NCBI36
NG_012492.1:g.43599C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.360+4C>T	ENSP00000437303.2:n.360+4C>T
ENST00000685198.1:c.315+4C>T	ENSP00000510528.1:n.315+4C>T
ENST00000687971.1:c.-19+4C>T	ENSP00000510788.1:n.-19+4C>T
ENST00000693060.1:c.195+4C>T	ENSP00000510329.1:n.195+4C>T
ENST00000345136.8:c.264+4C>T MANE Select	ENSP00000344848.3:n.264+4C>T
ENST00000527303.2:c.345+4C>T	ENSP00000433982.2:n.345+4C>T
ENST00000322810.8:c.675+4C>T	ENSP00000323856.4:n.675+4C>T
ENST00000345136.7:c.264+4C>T	ENSP00000344848.3:n.264+4C>T
ENST00000354589.7:c.264+4C>T	ENSP00000346602.3:n.264+4C>T
ENST00000354958.6:c.198+4C>T	ENSP00000347044.2:n.198+4C>T
ENST00000356346.7:c.222+4C>T MANE Plus Clinical	ENSP00000348702.3:n.222+4C>T
ENST00000357649.6:c.276+4C>T	ENSP00000350277.2:n.276+4C>T
ENST00000398774.6:c.168+4C>T	ENSP00000381756.2:n.168+4C>T
ENST00000436759.6:c.345+4C>T	ENSP00000388180.2:n.345+4C>T
ENST00000526416.5:c.195+4C>T	ENSP00000433557.1:n.195+4C>T
ENST00000527096.5:c.345+4C>T	ENSP00000434583.1:n.345+4C>T
ENST00000527816.5:c.-19+4C>T	ENSP00000434490.1:n.-19+4C>T
ENST00000528025.5:c.360+4C>T	ENSP00000437303.1:n.360+4C>T
ENST00000528131.1:c.315+4C>T	ENSP00000436702.1:n.315+4C>T
ENST00000532346.1:n.195+4C>T
NM_000445.4:c.345+4C>T	NP_000436.2:n.345+4C>T
NM_201378.3:c.222+4C>T	NP_958780.1:n.222+4C>T
NM_201379.2:c.198+4C>T	NP_958781.1:n.198+4C>T
NM_201380.3:c.675+4C>T	NP_958782.1:n.675+4C>T
NM_201381.2:c.168+4C>T	NP_958783.1:n.168+4C>T
NM_201382.3:c.264+4C>T	NP_958784.1:n.264+4C>T
NM_201383.2:c.276+4C>T	NP_958785.1:n.276+4C>T
NM_201384.2:c.264+4C>T	NP_958786.1:n.264+4C>T
XM_005250976.2:c.690+4C>T	XP_005251033.1:n.690+4C>T
XM_005250978.2:c.291+4C>T	XP_005251035.1:n.291+4C>T
XM_005250979.3:c.279+4C>T	XP_005251036.1:n.279+4C>T
XM_005250980.3:c.279+4C>T	XP_005251037.1:n.279+4C>T
XM_005250981.2:c.237+4C>T	XP_005251038.1:n.237+4C>T
XM_005250982.2:c.213+4C>T	XP_005251039.1:n.213+4C>T
XM_005250983.2:c.195+4C>T	XP_005251040.1:n.195+4C>T
XM_005250984.3:c.183+4C>T	XP_005251041.1:n.183+4C>T
XM_006716588.2:c.360+4C>T	XP_006716651.1:n.360+4C>T
XM_006716589.2:c.210+4C>T	XP_006716652.1:n.210+4C>T
XM_006716590.2:c.210+4C>T	XP_006716653.1:n.210+4C>T
XM_011517130.1:c.291+4C>T	XP_011515432.1:n.291+4C>T
XM_011517131.1:c.195+4C>T	XP_011515433.1:n.195+4C>T
XM_011517132.1:c.291+4C>T	XP_011515434.1:n.291+4C>T
XM_005250976.4:c.690+4C>T	XP_005251033.1:n.690+4C>T
XM_005250978.3:c.291+4C>T	XP_005251035.1:n.291+4C>T
XM_005250979.4:c.279+4C>T	XP_005251036.1:n.279+4C>T
XM_005250980.4:c.279+4C>T	XP_005251037.1:n.279+4C>T
XM_005250981.3:c.237+4C>T	XP_005251038.1:n.237+4C>T
XM_005250982.4:c.213+4C>T	XP_005251039.1:n.213+4C>T
XM_005250984.5:c.183+4C>T	XP_005251041.1:n.183+4C>T
XM_006716588.3:c.360+4C>T	XP_006716651.1:n.360+4C>T
XM_006716590.3:c.210+4C>T	XP_006716653.1:n.210+4C>T
XM_011517130.2:c.291+4C>T	XP_011515432.1:n.291+4C>T
XM_011517131.2:c.195+4C>T	XP_011515433.1:n.195+4C>T
XM_011517132.2:c.291+4C>T	XP_011515434.1:n.291+4C>T
NM_000445.5:c.345+4C>T	NP_000436.2:n.345+4C>T
NM_201378.4:c.222+4C>T MANE Plus Clinical	NP_958780.1:n.222+4C>T
NM_201379.3:c.198+4C>T	NP_958781.1:n.198+4C>T
NM_201380.4:c.675+4C>T	NP_958782.1:n.675+4C>T
NM_201381.3:c.168+4C>T	NP_958783.1:n.168+4C>T
NM_201382.4:c.264+4C>T	NP_958784.1:n.264+4C>T
NM_201383.3:c.276+4C>T	NP_958785.1:n.276+4C>T
NM_201384.3:c.264+4C>T MANE Select	NP_958786.1:n.264+4C>T