Canonical Allele Identifier: CA202605

Gene: PLEC

Linked Data

• ClinVar Variation Id: 196812
• ClinVar RCV Id: RCV000177683 ; RCV000576279 ; RCV001083547
• dbSNP Id: rs78461695
• ExAC: 8:144992269 G / A
• gnomAD v2: 8-144992269-G-A
• gnomAD v3: 8-143918101-G-A
• gnomAD v4: 8-143918101-G-A
• MyVariant Identifiers: chr8:g.144992269G>A (hg19) ; chr8:g.143918101G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143918101G>A , CM000670.2:g.143918101G>A	GRCh38
NC_000008.10:g.144992269G>A , CM000670.1:g.144992269G>A	GRCh37
NC_000008.9:g.145064257G>A	NCBI36
NG_012492.1:g.63645C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000528025.6:c.11852C>T	ENSP00000437303.2:p.Thr3951Met
ENST00000685198.1:c.11771C>T	ENSP00000510528.1:p.Thr3924Met
ENST00000687971.1:c.11438C>T	ENSP00000510788.1:p.Thr3813Met
ENST00000693060.1:c.11651C>T	ENSP00000510329.1:p.Thr3884Met
ENST00000345136.8:c.11720C>T MANE Select	ENSP00000344848.3:p.Thr3907Met
ENST00000527303.2:c.8420C>T	ENSP00000433982.2:p.Thr2807Met
ENST00000322810.8:c.12131C>T	ENSP00000323856.4:p.Thr4044Met
ENST00000345136.7:c.11720C>T	ENSP00000344848.3:p.Thr3907Met
ENST00000354589.7:c.11720C>T	ENSP00000346602.3:p.Thr3907Met
ENST00000354958.6:c.11654C>T	ENSP00000347044.2:p.Thr3885Met
ENST00000356346.7:c.11678C>T MANE Plus Clinical	ENSP00000348702.3:p.Thr3893Met
ENST00000357649.6:c.11732C>T	ENSP00000350277.2:p.Thr3911Met
ENST00000398774.6:c.11624C>T	ENSP00000381756.2:p.Thr3875Met
ENST00000436759.6:c.11801C>T	ENSP00000388180.2:p.Thr3934Met
ENST00000527096.5:c.11789C>T	ENSP00000434583.1:p.Thr3930Met
NM_000445.4:c.11801C>T	NP_000436.2:p.Thr3934Met
NM_201378.3:c.11678C>T	NP_958780.1:p.Thr3893Met
NM_201379.2:c.11654C>T	NP_958781.1:p.Thr3885Met
NM_201380.3:c.12131C>T	NP_958782.1:p.Thr4044Met
NM_201381.2:c.11624C>T	NP_958783.1:p.Thr3875Met
NM_201382.3:c.11720C>T	NP_958784.1:p.Thr3907Met
NM_201383.2:c.11732C>T	NP_958785.1:p.Thr3911Met
NM_201384.2:c.11720C>T	NP_958786.1:p.Thr3907Met
XM_005250976.2:c.12146C>T	XP_005251033.1:p.Thr4049Met
XM_005250978.2:c.11747C>T	XP_005251035.1:p.Thr3916Met
XM_005250979.3:c.11735C>T	XP_005251036.1:p.Thr3912Met
XM_005250980.3:c.11735C>T	XP_005251037.1:p.Thr3912Met
XM_005250981.2:c.11693C>T	XP_005251038.1:p.Thr3898Met
XM_005250982.2:c.11669C>T	XP_005251039.1:p.Thr3890Met
XM_005250983.2:c.11651C>T	XP_005251040.1:p.Thr3884Met
XM_005250984.3:c.11639C>T	XP_005251041.1:p.Thr3880Met
XM_006716588.2:c.11816C>T	XP_006716651.1:p.Thr3939Met
XM_006716589.2:c.11666C>T	XP_006716652.1:p.Thr3889Met
XM_006716590.2:c.11666C>T	XP_006716653.1:p.Thr3889Met
XM_011517130.1:c.11735C>T	XP_011515432.1:p.Thr3912Met
XM_011517131.1:c.11651C>T	XP_011515433.1:p.Thr3884Met
XM_011517132.1:c.8366C>T	XP_011515434.1:p.Thr2789Met
XM_005250976.4:c.12146C>T	XP_005251033.1:p.Thr4049Met
XM_005250978.3:c.11747C>T	XP_005251035.1:p.Thr3916Met
XM_005250979.4:c.11735C>T	XP_005251036.1:p.Thr3912Met
XM_005250980.4:c.11735C>T	XP_005251037.1:p.Thr3912Met
XM_005250981.3:c.11693C>T	XP_005251038.1:p.Thr3898Met
XM_005250982.4:c.11669C>T	XP_005251039.1:p.Thr3890Met
XM_005250984.5:c.11639C>T	XP_005251041.1:p.Thr3880Met
XM_006716588.3:c.11816C>T	XP_006716651.1:p.Thr3939Met
XM_006716590.3:c.11666C>T	XP_006716653.1:p.Thr3889Met
XM_011517130.2:c.11735C>T	XP_011515432.1:p.Thr3912Met
XM_011517131.2:c.11651C>T	XP_011515433.1:p.Thr3884Met
XM_011517132.2:c.8366C>T	XP_011515434.1:p.Thr2789Met
NM_000445.5:c.11801C>T	NP_000436.2:p.Thr3934Met
NM_201378.4:c.11678C>T MANE Plus Clinical	NP_958780.1:p.Thr3893Met
NM_201379.3:c.11654C>T	NP_958781.1:p.Thr3885Met
NM_201380.4:c.12131C>T	NP_958782.1:p.Thr4044Met
NM_201381.3:c.11624C>T	NP_958783.1:p.Thr3875Met
NM_201382.4:c.11720C>T	NP_958784.1:p.Thr3907Met
NM_201383.3:c.11732C>T	NP_958785.1:p.Thr3911Met
NM_201384.3:c.11720C>T MANE Select	NP_958786.1:p.Thr3907Met