Canonical Allele Identifier: CA372586129

Gene: PLEC

Linked Data

• MyVariant Identifiers: chr8:g.145009038C>A (hg19) ; chr8:g.143934870C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143934870C>A , CM000670.2:g.143934870C>A	GRCh38
NC_000008.10:g.145009038C>A , CM000670.1:g.145009038C>A	GRCh37
NC_000008.9:g.145081026C>A	NCBI36
NG_012492.1:g.46876G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.1017G>T	ENSP00000437303.2:p.Met339Ile
ENST00000685198.1:c.936G>T	ENSP00000510528.1:p.Met312Ile
ENST00000687971.1:c.603G>T	ENSP00000510788.1:p.Met201Ile
ENST00000693060.1:c.816G>T	ENSP00000510329.1:p.Met272Ile
ENST00000345136.8:c.885G>T MANE Select	ENSP00000344848.3:p.Met295Ile
ENST00000527303.2:c.966G>T	ENSP00000433982.2:p.Met322Ile
ENST00000322810.8:c.1296G>T	ENSP00000323856.4:p.Met432Ile
ENST00000345136.7:c.885G>T	ENSP00000344848.3:p.Met295Ile
ENST00000354589.7:c.885G>T	ENSP00000346602.3:p.Met295Ile
ENST00000354958.6:c.819G>T	ENSP00000347044.2:p.Met273Ile
ENST00000356346.7:c.843G>T MANE Plus Clinical	ENSP00000348702.3:p.Met281Ile
ENST00000357649.6:c.897G>T	ENSP00000350277.2:p.Met299Ile
ENST00000398774.6:c.789G>T	ENSP00000381756.2:p.Met263Ile
ENST00000436759.6:c.966G>T	ENSP00000388180.2:p.Met322Ile
ENST00000527096.5:c.954G>T	ENSP00000434583.1:p.Met318Ile
ENST00000528025.5:c.1017G>T	ENSP00000437303.1:p.Met339Ile
NM_000445.4:c.966G>T	NP_000436.2:p.Met322Ile
NM_201378.3:c.843G>T	NP_958780.1:p.Met281Ile
NM_201379.2:c.819G>T	NP_958781.1:p.Met273Ile
NM_201380.3:c.1296G>T	NP_958782.1:p.Met432Ile
NM_201381.2:c.789G>T	NP_958783.1:p.Met263Ile
NM_201382.3:c.885G>T	NP_958784.1:p.Met295Ile
NM_201383.2:c.897G>T	NP_958785.1:p.Met299Ile
NM_201384.2:c.885G>T	NP_958786.1:p.Met295Ile
XM_005250976.2:c.1311G>T	XP_005251033.1:p.Met437Ile
XM_005250978.2:c.912G>T	XP_005251035.1:p.Met304Ile
XM_005250979.3:c.900G>T	XP_005251036.1:p.Met300Ile
XM_005250980.3:c.900G>T	XP_005251037.1:p.Met300Ile
XM_005250981.2:c.858G>T	XP_005251038.1:p.Met286Ile
XM_005250982.2:c.834G>T	XP_005251039.1:p.Met278Ile
XM_005250983.2:c.816G>T	XP_005251040.1:p.Met272Ile
XM_005250984.3:c.804G>T	XP_005251041.1:p.Met268Ile
XM_006716588.2:c.981G>T	XP_006716651.1:p.Met327Ile
XM_006716589.2:c.831G>T	XP_006716652.1:p.Met277Ile
XM_006716590.2:c.831G>T	XP_006716653.1:p.Met277Ile
XM_011517130.1:c.900G>T	XP_011515432.1:p.Met300Ile
XM_011517131.1:c.816G>T	XP_011515433.1:p.Met272Ile
XM_011517132.1:c.912G>T	XP_011515434.1:p.Met304Ile
XM_005250976.4:c.1311G>T	XP_005251033.1:p.Met437Ile
XM_005250978.3:c.912G>T	XP_005251035.1:p.Met304Ile
XM_005250979.4:c.900G>T	XP_005251036.1:p.Met300Ile
XM_005250980.4:c.900G>T	XP_005251037.1:p.Met300Ile
XM_005250981.3:c.858G>T	XP_005251038.1:p.Met286Ile
XM_005250982.4:c.834G>T	XP_005251039.1:p.Met278Ile
XM_005250984.5:c.804G>T	XP_005251041.1:p.Met268Ile
XM_006716588.3:c.981G>T	XP_006716651.1:p.Met327Ile
XM_006716590.3:c.831G>T	XP_006716653.1:p.Met277Ile
XM_011517130.2:c.900G>T	XP_011515432.1:p.Met300Ile
XM_011517131.2:c.816G>T	XP_011515433.1:p.Met272Ile
XM_011517132.2:c.912G>T	XP_011515434.1:p.Met304Ile
NM_000445.5:c.966G>T	NP_000436.2:p.Met322Ile
NM_201378.4:c.843G>T MANE Plus Clinical	NP_958780.1:p.Met281Ile
NM_201379.3:c.819G>T	NP_958781.1:p.Met273Ile
NM_201380.4:c.1296G>T	NP_958782.1:p.Met432Ile
NM_201381.3:c.789G>T	NP_958783.1:p.Met263Ile
NM_201382.4:c.885G>T	NP_958784.1:p.Met295Ile
NM_201383.3:c.897G>T	NP_958785.1:p.Met299Ile
NM_201384.3:c.885G>T MANE Select	NP_958786.1:p.Met295Ile