Canonical Allele Identifier: CA4926068

Gene: PLEC

Linked Data

• ClinVar Variation Id: 287223
• ClinVar RCV Id: RCV000352378 ; RCV000725974 ; RCV001079892 ; RCV001331245
• dbSNP Id: rs781878105
• ExAC: 8:144997849 G / A
• gnomAD v2: 8-144997849-G-A
• gnomAD v3: 8-143923681-G-A
• gnomAD v4: 8-143923681-G-A
• MyVariant Identifiers: chr8:g.144997849G>A (hg19) ; chr8:g.143923681G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143923681G>A , CM000670.2:g.143923681G>A	GRCh38
NC_000008.10:g.144997849G>A , CM000670.1:g.144997849G>A	GRCh37
NC_000008.9:g.145069837G>A	NCBI36
NG_012492.1:g.58065C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000528025.6:c.6380C>T	ENSP00000437303.2:p.Ala2127Val
ENST00000685198.1:c.6299C>T	ENSP00000510528.1:p.Ala2100Val
ENST00000687971.1:c.5966C>T	ENSP00000510788.1:p.Ala1989Val
ENST00000693060.1:c.6179C>T	ENSP00000510329.1:p.Ala2060Val
ENST00000345136.8:c.6248C>T MANE Select	ENSP00000344848.3:p.Ala2083Val
ENST00000527303.2:c.4126-1286C>T	ENSP00000433982.2:n.4126-1286C>T
ENST00000322810.8:c.6659C>T	ENSP00000323856.4:p.Ala2220Val
ENST00000345136.7:c.6248C>T	ENSP00000344848.3:p.Ala2083Val
ENST00000354589.7:c.6248C>T	ENSP00000346602.3:p.Ala2083Val
ENST00000354958.6:c.6182C>T	ENSP00000347044.2:p.Ala2061Val
ENST00000356346.7:c.6206C>T MANE Plus Clinical	ENSP00000348702.3:p.Ala2069Val
ENST00000357649.6:c.6260C>T	ENSP00000350277.2:p.Ala2087Val
ENST00000398774.6:c.6152C>T	ENSP00000381756.2:p.Ala2051Val
ENST00000436759.6:c.6329C>T	ENSP00000388180.2:p.Ala2110Val
ENST00000527096.5:c.6317C>T	ENSP00000434583.1:p.Ala2106Val
ENST00000527303.1:c.135-1286C>T
NM_000445.4:c.6329C>T	NP_000436.2:p.Ala2110Val
NM_201378.3:c.6206C>T	NP_958780.1:p.Ala2069Val
NM_201379.2:c.6182C>T	NP_958781.1:p.Ala2061Val
NM_201380.3:c.6659C>T	NP_958782.1:p.Ala2220Val
NM_201381.2:c.6152C>T	NP_958783.1:p.Ala2051Val
NM_201382.3:c.6248C>T	NP_958784.1:p.Ala2083Val
NM_201383.2:c.6260C>T	NP_958785.1:p.Ala2087Val
NM_201384.2:c.6248C>T	NP_958786.1:p.Ala2083Val
XM_005250976.2:c.6674C>T	XP_005251033.1:p.Ala2225Val
XM_005250978.2:c.6275C>T	XP_005251035.1:p.Ala2092Val
XM_005250979.3:c.6263C>T	XP_005251036.1:p.Ala2088Val
XM_005250980.3:c.6263C>T	XP_005251037.1:p.Ala2088Val
XM_005250981.2:c.6221C>T	XP_005251038.1:p.Ala2074Val
XM_005250982.2:c.6197C>T	XP_005251039.1:p.Ala2066Val
XM_005250983.2:c.6179C>T	XP_005251040.1:p.Ala2060Val
XM_005250984.3:c.6167C>T	XP_005251041.1:p.Ala2056Val
XM_006716588.2:c.6344C>T	XP_006716651.1:p.Ala2115Val
XM_006716589.2:c.6194C>T	XP_006716652.1:p.Ala2065Val
XM_006716590.2:c.6194C>T	XP_006716653.1:p.Ala2065Val
XM_011517130.1:c.6263C>T	XP_011515432.1:p.Ala2088Val
XM_011517131.1:c.6179C>T	XP_011515433.1:p.Ala2060Val
XM_011517132.1:c.4072-1286C>T	XP_011515434.1:n.4072-1286C>T
XM_005250976.4:c.6674C>T	XP_005251033.1:p.Ala2225Val
XM_005250978.3:c.6275C>T	XP_005251035.1:p.Ala2092Val
XM_005250979.4:c.6263C>T	XP_005251036.1:p.Ala2088Val
XM_005250980.4:c.6263C>T	XP_005251037.1:p.Ala2088Val
XM_005250981.3:c.6221C>T	XP_005251038.1:p.Ala2074Val
XM_005250982.4:c.6197C>T	XP_005251039.1:p.Ala2066Val
XM_005250984.5:c.6167C>T	XP_005251041.1:p.Ala2056Val
XM_006716588.3:c.6344C>T	XP_006716651.1:p.Ala2115Val
XM_006716590.3:c.6194C>T	XP_006716653.1:p.Ala2065Val
XM_011517130.2:c.6263C>T	XP_011515432.1:p.Ala2088Val
XM_011517131.2:c.6179C>T	XP_011515433.1:p.Ala2060Val
XM_011517132.2:c.4072-1286C>T	XP_011515434.1:n.4072-1286C>T
NM_000445.5:c.6329C>T	NP_000436.2:p.Ala2110Val
NM_201378.4:c.6206C>T MANE Plus Clinical	NP_958780.1:p.Ala2069Val
NM_201379.3:c.6182C>T	NP_958781.1:p.Ala2061Val
NM_201380.4:c.6659C>T	NP_958782.1:p.Ala2220Val
NM_201381.3:c.6152C>T	NP_958783.1:p.Ala2051Val
NM_201382.4:c.6248C>T	NP_958784.1:p.Ala2083Val
NM_201383.3:c.6260C>T	NP_958785.1:p.Ala2087Val
NM_201384.3:c.6248C>T MANE Select	NP_958786.1:p.Ala2083Val