Canonical Allele Identifier: CA16616909

Gene: PLEC

Linked Data

• ClinVar Variation Id: 417887
• ClinVar RCV Id: RCV000477758
• dbSNP Id: rs1060499581
• MyVariant Identifiers: chr8:g.145008595G>A (hg19) ; chr8:g.143934427G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143934427G>A , CM000670.2:g.143934427G>A	GRCh38
NC_000008.10:g.145008595G>A , CM000670.1:g.145008595G>A	GRCh37
NC_000008.9:g.145080583G>A	NCBI36
NG_012492.1:g.47319C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.1192C>T	ENSP00000437303.2:p.Gln398Ter
ENST00000685198.1:c.1111C>T	ENSP00000510528.1:p.Gln371Ter
ENST00000687971.1:c.778C>T	ENSP00000510788.1:p.Gln260Ter
ENST00000693060.1:c.991C>T	ENSP00000510329.1:p.Gln331Ter
ENST00000345136.8:c.1060C>T MANE Select	ENSP00000344848.3:p.Gln354Ter
ENST00000527303.2:c.1141C>T	ENSP00000433982.2:p.Gln381Ter
ENST00000322810.8:c.1471C>T	ENSP00000323856.4:p.Gln491Ter
ENST00000345136.7:c.1060C>T	ENSP00000344848.3:p.Gln354Ter
ENST00000354589.7:c.1060C>T	ENSP00000346602.3:p.Gln354Ter
ENST00000354958.6:c.994C>T	ENSP00000347044.2:p.Gln332Ter
ENST00000356346.7:c.1018C>T MANE Plus Clinical	ENSP00000348702.3:p.Gln340Ter
ENST00000357649.6:c.1072C>T	ENSP00000350277.2:p.Gln358Ter
ENST00000398774.6:c.964C>T	ENSP00000381756.2:p.Gln322Ter
ENST00000436759.6:c.1141C>T	ENSP00000388180.2:p.Gln381Ter
ENST00000527096.5:c.1129C>T	ENSP00000434583.1:p.Gln377Ter
ENST00000528025.5:c.1192C>T	ENSP00000437303.1:p.Gln398Ter
NM_000445.4:c.1141C>T	NP_000436.2:p.Gln381Ter
NM_201378.3:c.1018C>T	NP_958780.1:p.Gln340Ter
NM_201379.2:c.994C>T	NP_958781.1:p.Gln332Ter
NM_201380.3:c.1471C>T	NP_958782.1:p.Gln491Ter
NM_201381.2:c.964C>T	NP_958783.1:p.Gln322Ter
NM_201382.3:c.1060C>T	NP_958784.1:p.Gln354Ter
NM_201383.2:c.1072C>T	NP_958785.1:p.Gln358Ter
NM_201384.2:c.1060C>T	NP_958786.1:p.Gln354Ter
XM_005250976.2:c.1486C>T	XP_005251033.1:p.Gln496Ter
XM_005250978.2:c.1087C>T	XP_005251035.1:p.Gln363Ter
XM_005250979.3:c.1075C>T	XP_005251036.1:p.Gln359Ter
XM_005250980.3:c.1075C>T	XP_005251037.1:p.Gln359Ter
XM_005250981.2:c.1033C>T	XP_005251038.1:p.Gln345Ter
XM_005250982.2:c.1009C>T	XP_005251039.1:p.Gln337Ter
XM_005250983.2:c.991C>T	XP_005251040.1:p.Gln331Ter
XM_005250984.3:c.979C>T	XP_005251041.1:p.Gln327Ter
XM_006716588.2:c.1156C>T	XP_006716651.1:p.Gln386Ter
XM_006716589.2:c.1006C>T	XP_006716652.1:p.Gln336Ter
XM_006716590.2:c.1006C>T	XP_006716653.1:p.Gln336Ter
XM_011517130.1:c.1075C>T	XP_011515432.1:p.Gln359Ter
XM_011517131.1:c.991C>T	XP_011515433.1:p.Gln331Ter
XM_011517132.1:c.1087C>T	XP_011515434.1:p.Gln363Ter
XM_005250976.4:c.1486C>T	XP_005251033.1:p.Gln496Ter
XM_005250978.3:c.1087C>T	XP_005251035.1:p.Gln363Ter
XM_005250979.4:c.1075C>T	XP_005251036.1:p.Gln359Ter
XM_005250980.4:c.1075C>T	XP_005251037.1:p.Gln359Ter
XM_005250981.3:c.1033C>T	XP_005251038.1:p.Gln345Ter
XM_005250982.4:c.1009C>T	XP_005251039.1:p.Gln337Ter
XM_005250984.5:c.979C>T	XP_005251041.1:p.Gln327Ter
XM_006716588.3:c.1156C>T	XP_006716651.1:p.Gln386Ter
XM_006716590.3:c.1006C>T	XP_006716653.1:p.Gln336Ter
XM_011517130.2:c.1075C>T	XP_011515432.1:p.Gln359Ter
XM_011517131.2:c.991C>T	XP_011515433.1:p.Gln331Ter
XM_011517132.2:c.1087C>T	XP_011515434.1:p.Gln363Ter
NM_000445.5:c.1141C>T	NP_000436.2:p.Gln381Ter
NM_201378.4:c.1018C>T MANE Plus Clinical	NP_958780.1:p.Gln340Ter
NM_201379.3:c.994C>T	NP_958781.1:p.Gln332Ter
NM_201380.4:c.1471C>T	NP_958782.1:p.Gln491Ter
NM_201381.3:c.964C>T	NP_958783.1:p.Gln322Ter
NM_201382.4:c.1060C>T	NP_958784.1:p.Gln354Ter
NM_201383.3:c.1072C>T	NP_958785.1:p.Gln358Ter
NM_201384.3:c.1060C>T MANE Select	NP_958786.1:p.Gln354Ter