Canonical Allele Identifier: CA372474528

Gene: PLEC

Linked Data

• MyVariant Identifiers: chr8:g.144990568T>C (hg19) ; chr8:g.143916400T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916400T>C , CM000670.2:g.143916400T>C	GRCh38
NC_000008.10:g.144990568T>C , CM000670.1:g.144990568T>C	GRCh37
NC_000008.9:g.145062556T>C	NCBI36
NG_012492.1:g.65346A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13553A>G	ENSP00000437303.2:p.Tyr4518Cys
ENST00000685198.1:c.13472A>G	ENSP00000510528.1:p.Tyr4491Cys
ENST00000687971.1:c.13139A>G	ENSP00000510788.1:p.Tyr4380Cys
ENST00000693060.1:c.13352A>G	ENSP00000510329.1:p.Tyr4451Cys
ENST00000345136.8:c.13421A>G MANE Select	ENSP00000344848.3:p.Tyr4474Cys
ENST00000527303.2:c.10121A>G	ENSP00000433982.2:p.Tyr3374Cys
ENST00000322810.8:c.13832A>G	ENSP00000323856.4:p.Tyr4611Cys
ENST00000345136.7:c.13421A>G	ENSP00000344848.3:p.Tyr4474Cys
ENST00000354589.7:c.13421A>G	ENSP00000346602.3:p.Tyr4474Cys
ENST00000354958.6:c.13355A>G	ENSP00000347044.2:p.Tyr4452Cys
ENST00000356346.7:c.13379A>G MANE Plus Clinical	ENSP00000348702.3:p.Tyr4460Cys
ENST00000357649.6:c.13433A>G	ENSP00000350277.2:p.Tyr4478Cys
ENST00000398774.6:c.13325A>G	ENSP00000381756.2:p.Tyr4442Cys
ENST00000436759.6:c.13502A>G	ENSP00000388180.2:p.Tyr4501Cys
ENST00000527096.5:c.13490A>G	ENSP00000434583.1:p.Tyr4497Cys
NM_000445.4:c.13502A>G	NP_000436.2:p.Tyr4501Cys
NM_201378.3:c.13379A>G	NP_958780.1:p.Tyr4460Cys
NM_201379.2:c.13355A>G	NP_958781.1:p.Tyr4452Cys
NM_201380.3:c.13832A>G	NP_958782.1:p.Tyr4611Cys
NM_201381.2:c.13325A>G	NP_958783.1:p.Tyr4442Cys
NM_201382.3:c.13421A>G	NP_958784.1:p.Tyr4474Cys
NM_201383.2:c.13433A>G	NP_958785.1:p.Tyr4478Cys
NM_201384.2:c.13421A>G	NP_958786.1:p.Tyr4474Cys
XM_005250976.2:c.13847A>G	XP_005251033.1:p.Tyr4616Cys
XM_005250978.2:c.13448A>G	XP_005251035.1:p.Tyr4483Cys
XM_005250979.3:c.13436A>G	XP_005251036.1:p.Tyr4479Cys
XM_005250980.3:c.13436A>G	XP_005251037.1:p.Tyr4479Cys
XM_005250981.2:c.13394A>G	XP_005251038.1:p.Tyr4465Cys
XM_005250982.2:c.13370A>G	XP_005251039.1:p.Tyr4457Cys
XM_005250983.2:c.13352A>G	XP_005251040.1:p.Tyr4451Cys
XM_005250984.3:c.13340A>G	XP_005251041.1:p.Tyr4447Cys
XM_006716588.2:c.13517A>G	XP_006716651.1:p.Tyr4506Cys
XM_006716589.2:c.13367A>G	XP_006716652.1:p.Tyr4456Cys
XM_006716590.2:c.13367A>G	XP_006716653.1:p.Tyr4456Cys
XM_011517130.1:c.13436A>G	XP_011515432.1:p.Tyr4479Cys
XM_011517131.1:c.13352A>G	XP_011515433.1:p.Tyr4451Cys
XM_011517132.1:c.10067A>G	XP_011515434.1:p.Tyr3356Cys
XM_005250976.4:c.13847A>G	XP_005251033.1:p.Tyr4616Cys
XM_005250978.3:c.13448A>G	XP_005251035.1:p.Tyr4483Cys
XM_005250979.4:c.13436A>G	XP_005251036.1:p.Tyr4479Cys
XM_005250980.4:c.13436A>G	XP_005251037.1:p.Tyr4479Cys
XM_005250981.3:c.13394A>G	XP_005251038.1:p.Tyr4465Cys
XM_005250982.4:c.13370A>G	XP_005251039.1:p.Tyr4457Cys
XM_005250984.5:c.13340A>G	XP_005251041.1:p.Tyr4447Cys
XM_006716588.3:c.13517A>G	XP_006716651.1:p.Tyr4506Cys
XM_006716590.3:c.13367A>G	XP_006716653.1:p.Tyr4456Cys
XM_011517130.2:c.13436A>G	XP_011515432.1:p.Tyr4479Cys
XM_011517131.2:c.13352A>G	XP_011515433.1:p.Tyr4451Cys
XM_011517132.2:c.10067A>G	XP_011515434.1:p.Tyr3356Cys
NM_000445.5:c.13502A>G	NP_000436.2:p.Tyr4501Cys
NM_201378.4:c.13379A>G MANE Plus Clinical	NP_958780.1:p.Tyr4460Cys
NM_201379.3:c.13355A>G	NP_958781.1:p.Tyr4452Cys
NM_201380.4:c.13832A>G	NP_958782.1:p.Tyr4611Cys
NM_201381.3:c.13325A>G	NP_958783.1:p.Tyr4442Cys
NM_201382.4:c.13421A>G	NP_958784.1:p.Tyr4474Cys
NM_201383.3:c.13433A>G	NP_958785.1:p.Tyr4478Cys
NM_201384.3:c.13421A>G MANE Select	NP_958786.1:p.Tyr4474Cys