Canonical Allele Identifier: CA372475688

Gene: PLEC

Linked Data

• dbSNP Id: rs1554669440
• gnomAD v2: 8-144990686-G-C
• gnomAD v4: 8-143916518-G-C
• MyVariant Identifiers: chr8:g.144990686G>C (hg19) ; chr8:g.143916518G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916518G>C , CM000670.2:g.143916518G>C	GRCh38
NC_000008.10:g.144990686G>C , CM000670.1:g.144990686G>C	GRCh37
NC_000008.9:g.145062674G>C	NCBI36
NG_012492.1:g.65228C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13435C>G	ENSP00000437303.2:p.Leu4479Val
ENST00000685198.1:c.13354C>G	ENSP00000510528.1:p.Leu4452Val
ENST00000687971.1:c.13021C>G	ENSP00000510788.1:p.Leu4341Val
ENST00000693060.1:c.13234C>G	ENSP00000510329.1:p.Leu4412Val
ENST00000345136.8:c.13303C>G MANE Select	ENSP00000344848.3:p.Leu4435Val
ENST00000527303.2:c.10003C>G	ENSP00000433982.2:p.Leu3335Val
ENST00000322810.8:c.13714C>G	ENSP00000323856.4:p.Leu4572Val
ENST00000345136.7:c.13303C>G	ENSP00000344848.3:p.Leu4435Val
ENST00000354589.7:c.13303C>G	ENSP00000346602.3:p.Leu4435Val
ENST00000354958.6:c.13237C>G	ENSP00000347044.2:p.Leu4413Val
ENST00000356346.7:c.13261C>G MANE Plus Clinical	ENSP00000348702.3:p.Leu4421Val
ENST00000357649.6:c.13315C>G	ENSP00000350277.2:p.Leu4439Val
ENST00000398774.6:c.13207C>G	ENSP00000381756.2:p.Leu4403Val
ENST00000436759.6:c.13384C>G	ENSP00000388180.2:p.Leu4462Val
ENST00000527096.5:c.13372C>G	ENSP00000434583.1:p.Leu4458Val
NM_000445.4:c.13384C>G	NP_000436.2:p.Leu4462Val
NM_201378.3:c.13261C>G	NP_958780.1:p.Leu4421Val
NM_201379.2:c.13237C>G	NP_958781.1:p.Leu4413Val
NM_201380.3:c.13714C>G	NP_958782.1:p.Leu4572Val
NM_201381.2:c.13207C>G	NP_958783.1:p.Leu4403Val
NM_201382.3:c.13303C>G	NP_958784.1:p.Leu4435Val
NM_201383.2:c.13315C>G	NP_958785.1:p.Leu4439Val
NM_201384.2:c.13303C>G	NP_958786.1:p.Leu4435Val
XM_005250976.2:c.13729C>G	XP_005251033.1:p.Leu4577Val
XM_005250978.2:c.13330C>G	XP_005251035.1:p.Leu4444Val
XM_005250979.3:c.13318C>G	XP_005251036.1:p.Leu4440Val
XM_005250980.3:c.13318C>G	XP_005251037.1:p.Leu4440Val
XM_005250981.2:c.13276C>G	XP_005251038.1:p.Leu4426Val
XM_005250982.2:c.13252C>G	XP_005251039.1:p.Leu4418Val
XM_005250983.2:c.13234C>G	XP_005251040.1:p.Leu4412Val
XM_005250984.3:c.13222C>G	XP_005251041.1:p.Leu4408Val
XM_006716588.2:c.13399C>G	XP_006716651.1:p.Leu4467Val
XM_006716589.2:c.13249C>G	XP_006716652.1:p.Leu4417Val
XM_006716590.2:c.13249C>G	XP_006716653.1:p.Leu4417Val
XM_011517130.1:c.13318C>G	XP_011515432.1:p.Leu4440Val
XM_011517131.1:c.13234C>G	XP_011515433.1:p.Leu4412Val
XM_011517132.1:c.9949C>G	XP_011515434.1:p.Leu3317Val
XM_005250976.4:c.13729C>G	XP_005251033.1:p.Leu4577Val
XM_005250978.3:c.13330C>G	XP_005251035.1:p.Leu4444Val
XM_005250979.4:c.13318C>G	XP_005251036.1:p.Leu4440Val
XM_005250980.4:c.13318C>G	XP_005251037.1:p.Leu4440Val
XM_005250981.3:c.13276C>G	XP_005251038.1:p.Leu4426Val
XM_005250982.4:c.13252C>G	XP_005251039.1:p.Leu4418Val
XM_005250984.5:c.13222C>G	XP_005251041.1:p.Leu4408Val
XM_006716588.3:c.13399C>G	XP_006716651.1:p.Leu4467Val
XM_006716590.3:c.13249C>G	XP_006716653.1:p.Leu4417Val
XM_011517130.2:c.13318C>G	XP_011515432.1:p.Leu4440Val
XM_011517131.2:c.13234C>G	XP_011515433.1:p.Leu4412Val
XM_011517132.2:c.9949C>G	XP_011515434.1:p.Leu3317Val
NM_000445.5:c.13384C>G	NP_000436.2:p.Leu4462Val
NM_201378.4:c.13261C>G MANE Plus Clinical	NP_958780.1:p.Leu4421Val
NM_201379.3:c.13237C>G	NP_958781.1:p.Leu4413Val
NM_201380.4:c.13714C>G	NP_958782.1:p.Leu4572Val
NM_201381.3:c.13207C>G	NP_958783.1:p.Leu4403Val
NM_201382.4:c.13303C>G	NP_958784.1:p.Leu4435Val
NM_201383.3:c.13315C>G	NP_958785.1:p.Leu4439Val
NM_201384.3:c.13303C>G MANE Select	NP_958786.1:p.Leu4435Val