Canonical Allele Identifier: CA4923893

Gene: PLEC

Linked Data

• ClinVar Variation Id: 281356
• ClinVar RCV Id: RCV000370598 ; RCV001087386 ; RCV004542980
• dbSNP Id: rs373958891
• ExAC: 8:144990807 G / A
• gnomAD v2: 8-144990807-G-A
• gnomAD v3: 8-143916639-G-A
• gnomAD v4: 8-143916639-G-A
• MyVariant Identifiers: chr8:g.144990807G>A (hg19) ; chr8:g.143916639G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916639G>A , CM000670.2:g.143916639G>A	GRCh38
NC_000008.10:g.144990807G>A , CM000670.1:g.144990807G>A	GRCh37
NC_000008.9:g.145062795G>A	NCBI36
NG_012492.1:g.65107C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13314C>T	ENSP00000437303.2:p.Thr4438=
ENST00000685198.1:c.13233C>T	ENSP00000510528.1:p.Thr4411=
ENST00000687971.1:c.12900C>T	ENSP00000510788.1:p.Thr4300=
ENST00000693060.1:c.13113C>T	ENSP00000510329.1:p.Thr4371=
ENST00000345136.8:c.13182C>T MANE Select	ENSP00000344848.3:p.Thr4394=
ENST00000527303.2:c.9882C>T	ENSP00000433982.2:p.Thr3294=
ENST00000322810.8:c.13593C>T	ENSP00000323856.4:p.Thr4531=
ENST00000345136.7:c.13182C>T	ENSP00000344848.3:p.Thr4394=
ENST00000354589.7:c.13182C>T	ENSP00000346602.3:p.Thr4394=
ENST00000354958.6:c.13116C>T	ENSP00000347044.2:p.Thr4372=
ENST00000356346.7:c.13140C>T MANE Plus Clinical	ENSP00000348702.3:p.Thr4380=
ENST00000357649.6:c.13194C>T	ENSP00000350277.2:p.Thr4398=
ENST00000398774.6:c.13086C>T	ENSP00000381756.2:p.Thr4362=
ENST00000436759.6:c.13263C>T	ENSP00000388180.2:p.Thr4421=
ENST00000527096.5:c.13251C>T	ENSP00000434583.1:p.Thr4417=
NM_000445.4:c.13263C>T	NP_000436.2:p.Thr4421=
NM_201378.3:c.13140C>T	NP_958780.1:p.Thr4380=
NM_201379.2:c.13116C>T	NP_958781.1:p.Thr4372=
NM_201380.3:c.13593C>T	NP_958782.1:p.Thr4531=
NM_201381.2:c.13086C>T	NP_958783.1:p.Thr4362=
NM_201382.3:c.13182C>T	NP_958784.1:p.Thr4394=
NM_201383.2:c.13194C>T	NP_958785.1:p.Thr4398=
NM_201384.2:c.13182C>T	NP_958786.1:p.Thr4394=
XM_005250976.2:c.13608C>T	XP_005251033.1:p.Thr4536=
XM_005250978.2:c.13209C>T	XP_005251035.1:p.Thr4403=
XM_005250979.3:c.13197C>T	XP_005251036.1:p.Thr4399=
XM_005250980.3:c.13197C>T	XP_005251037.1:p.Thr4399=
XM_005250981.2:c.13155C>T	XP_005251038.1:p.Thr4385=
XM_005250982.2:c.13131C>T	XP_005251039.1:p.Thr4377=
XM_005250983.2:c.13113C>T	XP_005251040.1:p.Thr4371=
XM_005250984.3:c.13101C>T	XP_005251041.1:p.Thr4367=
XM_006716588.2:c.13278C>T	XP_006716651.1:p.Thr4426=
XM_006716589.2:c.13128C>T	XP_006716652.1:p.Thr4376=
XM_006716590.2:c.13128C>T	XP_006716653.1:p.Thr4376=
XM_011517130.1:c.13197C>T	XP_011515432.1:p.Thr4399=
XM_011517131.1:c.13113C>T	XP_011515433.1:p.Thr4371=
XM_011517132.1:c.9828C>T	XP_011515434.1:p.Thr3276=
XM_005250976.4:c.13608C>T	XP_005251033.1:p.Thr4536=
XM_005250978.3:c.13209C>T	XP_005251035.1:p.Thr4403=
XM_005250979.4:c.13197C>T	XP_005251036.1:p.Thr4399=
XM_005250980.4:c.13197C>T	XP_005251037.1:p.Thr4399=
XM_005250981.3:c.13155C>T	XP_005251038.1:p.Thr4385=
XM_005250982.4:c.13131C>T	XP_005251039.1:p.Thr4377=
XM_005250984.5:c.13101C>T	XP_005251041.1:p.Thr4367=
XM_006716588.3:c.13278C>T	XP_006716651.1:p.Thr4426=
XM_006716590.3:c.13128C>T	XP_006716653.1:p.Thr4376=
XM_011517130.2:c.13197C>T	XP_011515432.1:p.Thr4399=
XM_011517131.2:c.13113C>T	XP_011515433.1:p.Thr4371=
XM_011517132.2:c.9828C>T	XP_011515434.1:p.Thr3276=
NM_000445.5:c.13263C>T	NP_000436.2:p.Thr4421=
NM_201378.4:c.13140C>T MANE Plus Clinical	NP_958780.1:p.Thr4380=
NM_201379.3:c.13116C>T	NP_958781.1:p.Thr4372=
NM_201380.4:c.13593C>T	NP_958782.1:p.Thr4531=
NM_201381.3:c.13086C>T	NP_958783.1:p.Thr4362=
NM_201382.4:c.13182C>T	NP_958784.1:p.Thr4394=
NM_201383.3:c.13194C>T	NP_958785.1:p.Thr4398=
NM_201384.3:c.13182C>T MANE Select	NP_958786.1:p.Thr4394=