Canonical Allele Identifier: CA4927992

Gene: PLEC

Linked Data

• ClinVar Variation Id: 539015
• ClinVar RCV Id: RCV000648617
• dbSNP Id: rs199865222
• ExAC: 8:145007388 C / G
• gnomAD v2: 8-145007388-C-G
• gnomAD v3: 8-143933220-C-G
• gnomAD v4: 8-143933220-C-G
• MyVariant Identifiers: chr8:g.145007388C>G (hg19) ; chr8:g.143933220C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143933220C>G , CM000670.2:g.143933220C>G	GRCh38
NC_000008.10:g.145007388C>G , CM000670.1:g.145007388C>G	GRCh37
NC_000008.9:g.145079376C>G	NCBI36
NG_012492.1:g.48526G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.1527G>C	ENSP00000437303.2:p.Pro509=
ENST00000685198.1:c.1446G>C	ENSP00000510528.1:p.Pro482=
ENST00000687971.1:c.1113G>C	ENSP00000510788.1:p.Pro371=
ENST00000693060.1:c.1326G>C	ENSP00000510329.1:p.Pro442=
ENST00000345136.8:c.1395G>C MANE Select	ENSP00000344848.3:p.Pro465=
ENST00000527303.2:c.1476G>C	ENSP00000433982.2:p.Pro492=
ENST00000322810.8:c.1806G>C	ENSP00000323856.4:p.Pro602=
ENST00000345136.7:c.1395G>C	ENSP00000344848.3:p.Pro465=
ENST00000354589.7:c.1395G>C	ENSP00000346602.3:p.Pro465=
ENST00000354958.6:c.1329G>C	ENSP00000347044.2:p.Pro443=
ENST00000356346.7:c.1353G>C MANE Plus Clinical	ENSP00000348702.3:p.Pro451=
ENST00000357649.6:c.1407G>C	ENSP00000350277.2:p.Pro469=
ENST00000398774.6:c.1299G>C	ENSP00000381756.2:p.Pro433=
ENST00000436759.6:c.1476G>C	ENSP00000388180.2:p.Pro492=
ENST00000527096.5:c.1464G>C	ENSP00000434583.1:p.Pro488=
ENST00000528025.5:c.1527G>C	ENSP00000437303.1:p.Pro509=
NM_000445.4:c.1476G>C	NP_000436.2:p.Pro492=
NM_201378.3:c.1353G>C	NP_958780.1:p.Pro451=
NM_201379.2:c.1329G>C	NP_958781.1:p.Pro443=
NM_201380.3:c.1806G>C	NP_958782.1:p.Pro602=
NM_201381.2:c.1299G>C	NP_958783.1:p.Pro433=
NM_201382.3:c.1395G>C	NP_958784.1:p.Pro465=
NM_201383.2:c.1407G>C	NP_958785.1:p.Pro469=
NM_201384.2:c.1395G>C	NP_958786.1:p.Pro465=
XM_005250976.2:c.1821G>C	XP_005251033.1:p.Pro607=
XM_005250978.2:c.1422G>C	XP_005251035.1:p.Pro474=
XM_005250979.3:c.1410G>C	XP_005251036.1:p.Pro470=
XM_005250980.3:c.1410G>C	XP_005251037.1:p.Pro470=
XM_005250981.2:c.1368G>C	XP_005251038.1:p.Pro456=
XM_005250982.2:c.1344G>C	XP_005251039.1:p.Pro448=
XM_005250983.2:c.1326G>C	XP_005251040.1:p.Pro442=
XM_005250984.3:c.1314G>C	XP_005251041.1:p.Pro438=
XM_006716588.2:c.1491G>C	XP_006716651.1:p.Pro497=
XM_006716589.2:c.1341G>C	XP_006716652.1:p.Pro447=
XM_006716590.2:c.1341G>C	XP_006716653.1:p.Pro447=
XM_011517130.1:c.1410G>C	XP_011515432.1:p.Pro470=
XM_011517131.1:c.1326G>C	XP_011515433.1:p.Pro442=
XM_011517132.1:c.1422G>C	XP_011515434.1:p.Pro474=
XM_005250976.4:c.1821G>C	XP_005251033.1:p.Pro607=
XM_005250978.3:c.1422G>C	XP_005251035.1:p.Pro474=
XM_005250979.4:c.1410G>C	XP_005251036.1:p.Pro470=
XM_005250980.4:c.1410G>C	XP_005251037.1:p.Pro470=
XM_005250981.3:c.1368G>C	XP_005251038.1:p.Pro456=
XM_005250982.4:c.1344G>C	XP_005251039.1:p.Pro448=
XM_005250984.5:c.1314G>C	XP_005251041.1:p.Pro438=
XM_006716588.3:c.1491G>C	XP_006716651.1:p.Pro497=
XM_006716590.3:c.1341G>C	XP_006716653.1:p.Pro447=
XM_011517130.2:c.1410G>C	XP_011515432.1:p.Pro470=
XM_011517131.2:c.1326G>C	XP_011515433.1:p.Pro442=
XM_011517132.2:c.1422G>C	XP_011515434.1:p.Pro474=
NM_000445.5:c.1476G>C	NP_000436.2:p.Pro492=
NM_201378.4:c.1353G>C MANE Plus Clinical	NP_958780.1:p.Pro451=
NM_201379.3:c.1329G>C	NP_958781.1:p.Pro443=
NM_201380.4:c.1806G>C	NP_958782.1:p.Pro602=
NM_201381.3:c.1299G>C	NP_958783.1:p.Pro433=
NM_201382.4:c.1395G>C	NP_958784.1:p.Pro465=
NM_201383.3:c.1407G>C	NP_958785.1:p.Pro469=
NM_201384.3:c.1395G>C MANE Select	NP_958786.1:p.Pro465=