Canonical Allele Identifier: CA372475730

Gene: PLEC

Linked Data

• dbSNP Id: rs781960986
• gnomAD v2: 8-144990707-C-A
• MyVariant Identifiers: chr8:g.144990707C>A (hg19) ; chr8:g.143916539C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916539C>A , CM000670.2:g.143916539C>A	GRCh38
NC_000008.10:g.144990707C>A , CM000670.1:g.144990707C>A	GRCh37
NC_000008.9:g.145062695C>A	NCBI36
NG_012492.1:g.65207G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13414G>T	ENSP00000437303.2:p.Val4472Leu
ENST00000685198.1:c.13333G>T	ENSP00000510528.1:p.Val4445Leu
ENST00000687971.1:c.13000G>T	ENSP00000510788.1:p.Val4334Leu
ENST00000693060.1:c.13213G>T	ENSP00000510329.1:p.Val4405Leu
ENST00000345136.8:c.13282G>T MANE Select	ENSP00000344848.3:p.Val4428Leu
ENST00000527303.2:c.9982G>T	ENSP00000433982.2:p.Val3328Leu
ENST00000322810.8:c.13693G>T	ENSP00000323856.4:p.Val4565Leu
ENST00000345136.7:c.13282G>T	ENSP00000344848.3:p.Val4428Leu
ENST00000354589.7:c.13282G>T	ENSP00000346602.3:p.Val4428Leu
ENST00000354958.6:c.13216G>T	ENSP00000347044.2:p.Val4406Leu
ENST00000356346.7:c.13240G>T MANE Plus Clinical	ENSP00000348702.3:p.Val4414Leu
ENST00000357649.6:c.13294G>T	ENSP00000350277.2:p.Val4432Leu
ENST00000398774.6:c.13186G>T	ENSP00000381756.2:p.Val4396Leu
ENST00000436759.6:c.13363G>T	ENSP00000388180.2:p.Val4455Leu
ENST00000527096.5:c.13351G>T	ENSP00000434583.1:p.Val4451Leu
NM_000445.4:c.13363G>T	NP_000436.2:p.Val4455Leu
NM_201378.3:c.13240G>T	NP_958780.1:p.Val4414Leu
NM_201379.2:c.13216G>T	NP_958781.1:p.Val4406Leu
NM_201380.3:c.13693G>T	NP_958782.1:p.Val4565Leu
NM_201381.2:c.13186G>T	NP_958783.1:p.Val4396Leu
NM_201382.3:c.13282G>T	NP_958784.1:p.Val4428Leu
NM_201383.2:c.13294G>T	NP_958785.1:p.Val4432Leu
NM_201384.2:c.13282G>T	NP_958786.1:p.Val4428Leu
XM_005250976.2:c.13708G>T	XP_005251033.1:p.Val4570Leu
XM_005250978.2:c.13309G>T	XP_005251035.1:p.Val4437Leu
XM_005250979.3:c.13297G>T	XP_005251036.1:p.Val4433Leu
XM_005250980.3:c.13297G>T	XP_005251037.1:p.Val4433Leu
XM_005250981.2:c.13255G>T	XP_005251038.1:p.Val4419Leu
XM_005250982.2:c.13231G>T	XP_005251039.1:p.Val4411Leu
XM_005250983.2:c.13213G>T	XP_005251040.1:p.Val4405Leu
XM_005250984.3:c.13201G>T	XP_005251041.1:p.Val4401Leu
XM_006716588.2:c.13378G>T	XP_006716651.1:p.Val4460Leu
XM_006716589.2:c.13228G>T	XP_006716652.1:p.Val4410Leu
XM_006716590.2:c.13228G>T	XP_006716653.1:p.Val4410Leu
XM_011517130.1:c.13297G>T	XP_011515432.1:p.Val4433Leu
XM_011517131.1:c.13213G>T	XP_011515433.1:p.Val4405Leu
XM_011517132.1:c.9928G>T	XP_011515434.1:p.Val3310Leu
XM_005250976.4:c.13708G>T	XP_005251033.1:p.Val4570Leu
XM_005250978.3:c.13309G>T	XP_005251035.1:p.Val4437Leu
XM_005250979.4:c.13297G>T	XP_005251036.1:p.Val4433Leu
XM_005250980.4:c.13297G>T	XP_005251037.1:p.Val4433Leu
XM_005250981.3:c.13255G>T	XP_005251038.1:p.Val4419Leu
XM_005250982.4:c.13231G>T	XP_005251039.1:p.Val4411Leu
XM_005250984.5:c.13201G>T	XP_005251041.1:p.Val4401Leu
XM_006716588.3:c.13378G>T	XP_006716651.1:p.Val4460Leu
XM_006716590.3:c.13228G>T	XP_006716653.1:p.Val4410Leu
XM_011517130.2:c.13297G>T	XP_011515432.1:p.Val4433Leu
XM_011517131.2:c.13213G>T	XP_011515433.1:p.Val4405Leu
XM_011517132.2:c.9928G>T	XP_011515434.1:p.Val3310Leu
NM_000445.5:c.13363G>T	NP_000436.2:p.Val4455Leu
NM_201378.4:c.13240G>T MANE Plus Clinical	NP_958780.1:p.Val4414Leu
NM_201379.3:c.13216G>T	NP_958781.1:p.Val4406Leu
NM_201380.4:c.13693G>T	NP_958782.1:p.Val4565Leu
NM_201381.3:c.13186G>T	NP_958783.1:p.Val4396Leu
NM_201382.4:c.13282G>T	NP_958784.1:p.Val4428Leu
NM_201383.3:c.13294G>T	NP_958785.1:p.Val4432Leu
NM_201384.3:c.13282G>T MANE Select	NP_958786.1:p.Val4428Leu