Canonical Allele Identifier: CA372503713

Gene: PLEC

Linked Data

• MyVariant Identifiers: chr8:g.144993884C>G (hg19) ; chr8:g.143919716C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143919716C>G , CM000670.2:g.143919716C>G	GRCh38
NC_000008.10:g.144993884C>G , CM000670.1:g.144993884C>G	GRCh37
NC_000008.9:g.145065872C>G	NCBI36
NG_012492.1:g.62030G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.10237G>C	ENSP00000437303.2:p.Val3413Leu
ENST00000685198.1:c.10156G>C	ENSP00000510528.1:p.Val3386Leu
ENST00000687971.1:c.9823G>C	ENSP00000510788.1:p.Val3275Leu
ENST00000693060.1:c.10036G>C	ENSP00000510329.1:p.Val3346Leu
ENST00000345136.8:c.10105G>C MANE Select	ENSP00000344848.3:p.Val3369Leu
ENST00000527303.2:c.6805G>C	ENSP00000433982.2:p.Val2269Leu
ENST00000322810.8:c.10516G>C	ENSP00000323856.4:p.Val3506Leu
ENST00000345136.7:c.10105G>C	ENSP00000344848.3:p.Val3369Leu
ENST00000354589.7:c.10105G>C	ENSP00000346602.3:p.Val3369Leu
ENST00000354958.6:c.10039G>C	ENSP00000347044.2:p.Val3347Leu
ENST00000356346.7:c.10063G>C MANE Plus Clinical	ENSP00000348702.3:p.Val3355Leu
ENST00000357649.6:c.10117G>C	ENSP00000350277.2:p.Val3373Leu
ENST00000398774.6:c.10009G>C	ENSP00000381756.2:p.Val3337Leu
ENST00000436759.6:c.10186G>C	ENSP00000388180.2:p.Val3396Leu
ENST00000527096.5:c.10174G>C	ENSP00000434583.1:p.Val3392Leu
NM_000445.4:c.10186G>C	NP_000436.2:p.Val3396Leu
NM_201378.3:c.10063G>C	NP_958780.1:p.Val3355Leu
NM_201379.2:c.10039G>C	NP_958781.1:p.Val3347Leu
NM_201380.3:c.10516G>C	NP_958782.1:p.Val3506Leu
NM_201381.2:c.10009G>C	NP_958783.1:p.Val3337Leu
NM_201382.3:c.10105G>C	NP_958784.1:p.Val3369Leu
NM_201383.2:c.10117G>C	NP_958785.1:p.Val3373Leu
NM_201384.2:c.10105G>C	NP_958786.1:p.Val3369Leu
XM_005250976.2:c.10531G>C	XP_005251033.1:p.Val3511Leu
XM_005250978.2:c.10132G>C	XP_005251035.1:p.Val3378Leu
XM_005250979.3:c.10120G>C	XP_005251036.1:p.Val3374Leu
XM_005250980.3:c.10120G>C	XP_005251037.1:p.Val3374Leu
XM_005250981.2:c.10078G>C	XP_005251038.1:p.Val3360Leu
XM_005250982.2:c.10054G>C	XP_005251039.1:p.Val3352Leu
XM_005250983.2:c.10036G>C	XP_005251040.1:p.Val3346Leu
XM_005250984.3:c.10024G>C	XP_005251041.1:p.Val3342Leu
XM_006716588.2:c.10201G>C	XP_006716651.1:p.Val3401Leu
XM_006716589.2:c.10051G>C	XP_006716652.1:p.Val3351Leu
XM_006716590.2:c.10051G>C	XP_006716653.1:p.Val3351Leu
XM_011517130.1:c.10120G>C	XP_011515432.1:p.Val3374Leu
XM_011517131.1:c.10036G>C	XP_011515433.1:p.Val3346Leu
XM_011517132.1:c.6751G>C	XP_011515434.1:p.Val2251Leu
XM_005250976.4:c.10531G>C	XP_005251033.1:p.Val3511Leu
XM_005250978.3:c.10132G>C	XP_005251035.1:p.Val3378Leu
XM_005250979.4:c.10120G>C	XP_005251036.1:p.Val3374Leu
XM_005250980.4:c.10120G>C	XP_005251037.1:p.Val3374Leu
XM_005250981.3:c.10078G>C	XP_005251038.1:p.Val3360Leu
XM_005250982.4:c.10054G>C	XP_005251039.1:p.Val3352Leu
XM_005250984.5:c.10024G>C	XP_005251041.1:p.Val3342Leu
XM_006716588.3:c.10201G>C	XP_006716651.1:p.Val3401Leu
XM_006716590.3:c.10051G>C	XP_006716653.1:p.Val3351Leu
XM_011517130.2:c.10120G>C	XP_011515432.1:p.Val3374Leu
XM_011517131.2:c.10036G>C	XP_011515433.1:p.Val3346Leu
XM_011517132.2:c.6751G>C	XP_011515434.1:p.Val2251Leu
NM_000445.5:c.10186G>C	NP_000436.2:p.Val3396Leu
NM_201378.4:c.10063G>C MANE Plus Clinical	NP_958780.1:p.Val3355Leu
NM_201379.3:c.10039G>C	NP_958781.1:p.Val3347Leu
NM_201380.4:c.10516G>C	NP_958782.1:p.Val3506Leu
NM_201381.3:c.10009G>C	NP_958783.1:p.Val3337Leu
NM_201382.4:c.10105G>C	NP_958784.1:p.Val3369Leu
NM_201383.3:c.10117G>C	NP_958785.1:p.Val3373Leu
NM_201384.3:c.10105G>C MANE Select	NP_958786.1:p.Val3369Leu