Canonical Allele Identifier: CA372474426

Gene: PLEC

Linked Data

• MyVariant Identifiers: chr8:g.144990546G>C (hg19) ; chr8:g.143916378G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916378G>C , CM000670.2:g.143916378G>C	GRCh38
NC_000008.10:g.144990546G>C , CM000670.1:g.144990546G>C	GRCh37
NC_000008.9:g.145062534G>C	NCBI36
NG_012492.1:g.65368C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13575C>G	ENSP00000437303.2:p.Ser4525Arg
ENST00000685198.1:c.13494C>G	ENSP00000510528.1:p.Ser4498Arg
ENST00000687971.1:c.13161C>G	ENSP00000510788.1:p.Ser4387Arg
ENST00000693060.1:c.13374C>G	ENSP00000510329.1:p.Ser4458Arg
ENST00000345136.8:c.13443C>G MANE Select	ENSP00000344848.3:p.Ser4481Arg
ENST00000527303.2:c.10143C>G	ENSP00000433982.2:p.Ser3381Arg
ENST00000322810.8:c.13854C>G	ENSP00000323856.4:p.Ser4618Arg
ENST00000345136.7:c.13443C>G	ENSP00000344848.3:p.Ser4481Arg
ENST00000354589.7:c.13443C>G	ENSP00000346602.3:p.Ser4481Arg
ENST00000354958.6:c.13377C>G	ENSP00000347044.2:p.Ser4459Arg
ENST00000356346.7:c.13401C>G MANE Plus Clinical	ENSP00000348702.3:p.Ser4467Arg
ENST00000357649.6:c.13455C>G	ENSP00000350277.2:p.Ser4485Arg
ENST00000398774.6:c.13347C>G	ENSP00000381756.2:p.Ser4449Arg
ENST00000436759.6:c.13524C>G	ENSP00000388180.2:p.Ser4508Arg
ENST00000527096.5:c.13512C>G	ENSP00000434583.1:p.Ser4504Arg
NM_000445.4:c.13524C>G	NP_000436.2:p.Ser4508Arg
NM_201378.3:c.13401C>G	NP_958780.1:p.Ser4467Arg
NM_201379.2:c.13377C>G	NP_958781.1:p.Ser4459Arg
NM_201380.3:c.13854C>G	NP_958782.1:p.Ser4618Arg
NM_201381.2:c.13347C>G	NP_958783.1:p.Ser4449Arg
NM_201382.3:c.13443C>G	NP_958784.1:p.Ser4481Arg
NM_201383.2:c.13455C>G	NP_958785.1:p.Ser4485Arg
NM_201384.2:c.13443C>G	NP_958786.1:p.Ser4481Arg
XM_005250976.2:c.13869C>G	XP_005251033.1:p.Ser4623Arg
XM_005250978.2:c.13470C>G	XP_005251035.1:p.Ser4490Arg
XM_005250979.3:c.13458C>G	XP_005251036.1:p.Ser4486Arg
XM_005250980.3:c.13458C>G	XP_005251037.1:p.Ser4486Arg
XM_005250981.2:c.13416C>G	XP_005251038.1:p.Ser4472Arg
XM_005250982.2:c.13392C>G	XP_005251039.1:p.Ser4464Arg
XM_005250983.2:c.13374C>G	XP_005251040.1:p.Ser4458Arg
XM_005250984.3:c.13362C>G	XP_005251041.1:p.Ser4454Arg
XM_006716588.2:c.13539C>G	XP_006716651.1:p.Ser4513Arg
XM_006716589.2:c.13389C>G	XP_006716652.1:p.Ser4463Arg
XM_006716590.2:c.13389C>G	XP_006716653.1:p.Ser4463Arg
XM_011517130.1:c.13458C>G	XP_011515432.1:p.Ser4486Arg
XM_011517131.1:c.13374C>G	XP_011515433.1:p.Ser4458Arg
XM_011517132.1:c.10089C>G	XP_011515434.1:p.Ser3363Arg
XM_005250976.4:c.13869C>G	XP_005251033.1:p.Ser4623Arg
XM_005250978.3:c.13470C>G	XP_005251035.1:p.Ser4490Arg
XM_005250979.4:c.13458C>G	XP_005251036.1:p.Ser4486Arg
XM_005250980.4:c.13458C>G	XP_005251037.1:p.Ser4486Arg
XM_005250981.3:c.13416C>G	XP_005251038.1:p.Ser4472Arg
XM_005250982.4:c.13392C>G	XP_005251039.1:p.Ser4464Arg
XM_005250984.5:c.13362C>G	XP_005251041.1:p.Ser4454Arg
XM_006716588.3:c.13539C>G	XP_006716651.1:p.Ser4513Arg
XM_006716590.3:c.13389C>G	XP_006716653.1:p.Ser4463Arg
XM_011517130.2:c.13458C>G	XP_011515432.1:p.Ser4486Arg
XM_011517131.2:c.13374C>G	XP_011515433.1:p.Ser4458Arg
XM_011517132.2:c.10089C>G	XP_011515434.1:p.Ser3363Arg
NM_000445.5:c.13524C>G	NP_000436.2:p.Ser4508Arg
NM_201378.4:c.13401C>G MANE Plus Clinical	NP_958780.1:p.Ser4467Arg
NM_201379.3:c.13377C>G	NP_958781.1:p.Ser4459Arg
NM_201380.4:c.13854C>G	NP_958782.1:p.Ser4618Arg
NM_201381.3:c.13347C>G	NP_958783.1:p.Ser4449Arg
NM_201382.4:c.13443C>G	NP_958784.1:p.Ser4481Arg
NM_201383.3:c.13455C>G	NP_958785.1:p.Ser4485Arg
NM_201384.3:c.13443C>G MANE Select	NP_958786.1:p.Ser4481Arg