Canonical Allele Identifier: CA372581976

Gene: PLEC

Linked Data

• gnomAD v4: 8-143933221-G-T
• MyVariant Identifiers: chr8:g.145007389G>T (hg19) ; chr8:g.143933221G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143933221G>T , CM000670.2:g.143933221G>T	GRCh38
NC_000008.10:g.145007389G>T , CM000670.1:g.145007389G>T	GRCh37
NC_000008.9:g.145079377G>T	NCBI36
NG_012492.1:g.48525C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.1526C>A	ENSP00000437303.2:p.Pro509Gln
ENST00000685198.1:c.1445C>A	ENSP00000510528.1:p.Pro482Gln
ENST00000687971.1:c.1112C>A	ENSP00000510788.1:p.Pro371Gln
ENST00000693060.1:c.1325C>A	ENSP00000510329.1:p.Pro442Gln
ENST00000345136.8:c.1394C>A MANE Select	ENSP00000344848.3:p.Pro465Gln
ENST00000527303.2:c.1475C>A	ENSP00000433982.2:p.Pro492Gln
ENST00000322810.8:c.1805C>A	ENSP00000323856.4:p.Pro602Gln
ENST00000345136.7:c.1394C>A	ENSP00000344848.3:p.Pro465Gln
ENST00000354589.7:c.1394C>A	ENSP00000346602.3:p.Pro465Gln
ENST00000354958.6:c.1328C>A	ENSP00000347044.2:p.Pro443Gln
ENST00000356346.7:c.1352C>A MANE Plus Clinical	ENSP00000348702.3:p.Pro451Gln
ENST00000357649.6:c.1406C>A	ENSP00000350277.2:p.Pro469Gln
ENST00000398774.6:c.1298C>A	ENSP00000381756.2:p.Pro433Gln
ENST00000436759.6:c.1475C>A	ENSP00000388180.2:p.Pro492Gln
ENST00000527096.5:c.1463C>A	ENSP00000434583.1:p.Pro488Gln
ENST00000528025.5:c.1526C>A	ENSP00000437303.1:p.Pro509Gln
NM_000445.4:c.1475C>A	NP_000436.2:p.Pro492Gln
NM_201378.3:c.1352C>A	NP_958780.1:p.Pro451Gln
NM_201379.2:c.1328C>A	NP_958781.1:p.Pro443Gln
NM_201380.3:c.1805C>A	NP_958782.1:p.Pro602Gln
NM_201381.2:c.1298C>A	NP_958783.1:p.Pro433Gln
NM_201382.3:c.1394C>A	NP_958784.1:p.Pro465Gln
NM_201383.2:c.1406C>A	NP_958785.1:p.Pro469Gln
NM_201384.2:c.1394C>A	NP_958786.1:p.Pro465Gln
XM_005250976.2:c.1820C>A	XP_005251033.1:p.Pro607Gln
XM_005250978.2:c.1421C>A	XP_005251035.1:p.Pro474Gln
XM_005250979.3:c.1409C>A	XP_005251036.1:p.Pro470Gln
XM_005250980.3:c.1409C>A	XP_005251037.1:p.Pro470Gln
XM_005250981.2:c.1367C>A	XP_005251038.1:p.Pro456Gln
XM_005250982.2:c.1343C>A	XP_005251039.1:p.Pro448Gln
XM_005250983.2:c.1325C>A	XP_005251040.1:p.Pro442Gln
XM_005250984.3:c.1313C>A	XP_005251041.1:p.Pro438Gln
XM_006716588.2:c.1490C>A	XP_006716651.1:p.Pro497Gln
XM_006716589.2:c.1340C>A	XP_006716652.1:p.Pro447Gln
XM_006716590.2:c.1340C>A	XP_006716653.1:p.Pro447Gln
XM_011517130.1:c.1409C>A	XP_011515432.1:p.Pro470Gln
XM_011517131.1:c.1325C>A	XP_011515433.1:p.Pro442Gln
XM_011517132.1:c.1421C>A	XP_011515434.1:p.Pro474Gln
XM_005250976.4:c.1820C>A	XP_005251033.1:p.Pro607Gln
XM_005250978.3:c.1421C>A	XP_005251035.1:p.Pro474Gln
XM_005250979.4:c.1409C>A	XP_005251036.1:p.Pro470Gln
XM_005250980.4:c.1409C>A	XP_005251037.1:p.Pro470Gln
XM_005250981.3:c.1367C>A	XP_005251038.1:p.Pro456Gln
XM_005250982.4:c.1343C>A	XP_005251039.1:p.Pro448Gln
XM_005250984.5:c.1313C>A	XP_005251041.1:p.Pro438Gln
XM_006716588.3:c.1490C>A	XP_006716651.1:p.Pro497Gln
XM_006716590.3:c.1340C>A	XP_006716653.1:p.Pro447Gln
XM_011517130.2:c.1409C>A	XP_011515432.1:p.Pro470Gln
XM_011517131.2:c.1325C>A	XP_011515433.1:p.Pro442Gln
XM_011517132.2:c.1421C>A	XP_011515434.1:p.Pro474Gln
NM_000445.5:c.1475C>A	NP_000436.2:p.Pro492Gln
NM_201378.4:c.1352C>A MANE Plus Clinical	NP_958780.1:p.Pro451Gln
NM_201379.3:c.1328C>A	NP_958781.1:p.Pro443Gln
NM_201380.4:c.1805C>A	NP_958782.1:p.Pro602Gln
NM_201381.3:c.1298C>A	NP_958783.1:p.Pro433Gln
NM_201382.4:c.1394C>A	NP_958784.1:p.Pro465Gln
NM_201383.3:c.1406C>A	NP_958785.1:p.Pro469Gln
NM_201384.3:c.1394C>A MANE Select	NP_958786.1:p.Pro465Gln