Canonical Allele Identifier: CA372474179

Gene: PLEC

Linked Data

• gnomAD v4: 8-143916328-C-A
• MyVariant Identifiers: chr8:g.144990496C>A (hg19) ; chr8:g.143916328C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916328C>A , CM000670.2:g.143916328C>A	GRCh38
NC_000008.10:g.144990496C>A , CM000670.1:g.144990496C>A	GRCh37
NC_000008.9:g.145062484C>A	NCBI36
NG_012492.1:g.65418G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13625G>T	ENSP00000437303.2:p.Arg4542Leu
ENST00000685198.1:c.13544G>T	ENSP00000510528.1:p.Arg4515Leu
ENST00000687971.1:c.13211G>T	ENSP00000510788.1:p.Arg4404Leu
ENST00000693060.1:c.13424G>T	ENSP00000510329.1:p.Arg4475Leu
ENST00000345136.8:c.13493G>T MANE Select	ENSP00000344848.3:p.Arg4498Leu
ENST00000527303.2:c.10193G>T	ENSP00000433982.2:p.Arg3398Leu
ENST00000322810.8:c.13904G>T	ENSP00000323856.4:p.Arg4635Leu
ENST00000345136.7:c.13493G>T	ENSP00000344848.3:p.Arg4498Leu
ENST00000354589.7:c.13493G>T	ENSP00000346602.3:p.Arg4498Leu
ENST00000354958.6:c.13427G>T	ENSP00000347044.2:p.Arg4476Leu
ENST00000356346.7:c.13451G>T MANE Plus Clinical	ENSP00000348702.3:p.Arg4484Leu
ENST00000357649.6:c.13505G>T	ENSP00000350277.2:p.Arg4502Leu
ENST00000398774.6:c.13397G>T	ENSP00000381756.2:p.Arg4466Leu
ENST00000436759.6:c.13574G>T	ENSP00000388180.2:p.Arg4525Leu
ENST00000527096.5:c.13562G>T	ENSP00000434583.1:p.Arg4521Leu
NM_000445.4:c.13574G>T	NP_000436.2:p.Arg4525Leu
NM_201378.3:c.13451G>T	NP_958780.1:p.Arg4484Leu
NM_201379.2:c.13427G>T	NP_958781.1:p.Arg4476Leu
NM_201380.3:c.13904G>T	NP_958782.1:p.Arg4635Leu
NM_201381.2:c.13397G>T	NP_958783.1:p.Arg4466Leu
NM_201382.3:c.13493G>T	NP_958784.1:p.Arg4498Leu
NM_201383.2:c.13505G>T	NP_958785.1:p.Arg4502Leu
NM_201384.2:c.13493G>T	NP_958786.1:p.Arg4498Leu
XM_005250976.2:c.13919G>T	XP_005251033.1:p.Arg4640Leu
XM_005250978.2:c.13520G>T	XP_005251035.1:p.Arg4507Leu
XM_005250979.3:c.13508G>T	XP_005251036.1:p.Arg4503Leu
XM_005250980.3:c.13508G>T	XP_005251037.1:p.Arg4503Leu
XM_005250981.2:c.13466G>T	XP_005251038.1:p.Arg4489Leu
XM_005250982.2:c.13442G>T	XP_005251039.1:p.Arg4481Leu
XM_005250983.2:c.13424G>T	XP_005251040.1:p.Arg4475Leu
XM_005250984.3:c.13412G>T	XP_005251041.1:p.Arg4471Leu
XM_006716588.2:c.13589G>T	XP_006716651.1:p.Arg4530Leu
XM_006716589.2:c.13439G>T	XP_006716652.1:p.Arg4480Leu
XM_006716590.2:c.13439G>T	XP_006716653.1:p.Arg4480Leu
XM_011517130.1:c.13508G>T	XP_011515432.1:p.Arg4503Leu
XM_011517131.1:c.13424G>T	XP_011515433.1:p.Arg4475Leu
XM_011517132.1:c.10139G>T	XP_011515434.1:p.Arg3380Leu
XM_005250976.4:c.13919G>T	XP_005251033.1:p.Arg4640Leu
XM_005250978.3:c.13520G>T	XP_005251035.1:p.Arg4507Leu
XM_005250979.4:c.13508G>T	XP_005251036.1:p.Arg4503Leu
XM_005250980.4:c.13508G>T	XP_005251037.1:p.Arg4503Leu
XM_005250981.3:c.13466G>T	XP_005251038.1:p.Arg4489Leu
XM_005250982.4:c.13442G>T	XP_005251039.1:p.Arg4481Leu
XM_005250984.5:c.13412G>T	XP_005251041.1:p.Arg4471Leu
XM_006716588.3:c.13589G>T	XP_006716651.1:p.Arg4530Leu
XM_006716590.3:c.13439G>T	XP_006716653.1:p.Arg4480Leu
XM_011517130.2:c.13508G>T	XP_011515432.1:p.Arg4503Leu
XM_011517131.2:c.13424G>T	XP_011515433.1:p.Arg4475Leu
XM_011517132.2:c.10139G>T	XP_011515434.1:p.Arg3380Leu
NM_000445.5:c.13574G>T	NP_000436.2:p.Arg4525Leu
NM_201378.4:c.13451G>T MANE Plus Clinical	NP_958780.1:p.Arg4484Leu
NM_201379.3:c.13427G>T	NP_958781.1:p.Arg4476Leu
NM_201380.4:c.13904G>T	NP_958782.1:p.Arg4635Leu
NM_201381.3:c.13397G>T	NP_958783.1:p.Arg4466Leu
NM_201382.4:c.13493G>T	NP_958784.1:p.Arg4498Leu
NM_201383.3:c.13505G>T	NP_958785.1:p.Arg4502Leu
NM_201384.3:c.13493G>T MANE Select	NP_958786.1:p.Arg4498Leu