Canonical Allele Identifier: CA372475716

Gene: PLEC

Linked Data

• MyVariant Identifiers: chr8:g.144990698A>G (hg19) ; chr8:g.143916530A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916530A>G , CM000670.2:g.143916530A>G	GRCh38
NC_000008.10:g.144990698A>G , CM000670.1:g.144990698A>G	GRCh37
NC_000008.9:g.145062686A>G	NCBI36
NG_012492.1:g.65216T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13423T>C	ENSP00000437303.2:p.Tyr4475His
ENST00000685198.1:c.13342T>C	ENSP00000510528.1:p.Tyr4448His
ENST00000687971.1:c.13009T>C	ENSP00000510788.1:p.Tyr4337His
ENST00000693060.1:c.13222T>C	ENSP00000510329.1:p.Tyr4408His
ENST00000345136.8:c.13291T>C MANE Select	ENSP00000344848.3:p.Tyr4431His
ENST00000527303.2:c.9991T>C	ENSP00000433982.2:p.Tyr3331His
ENST00000322810.8:c.13702T>C	ENSP00000323856.4:p.Tyr4568His
ENST00000345136.7:c.13291T>C	ENSP00000344848.3:p.Tyr4431His
ENST00000354589.7:c.13291T>C	ENSP00000346602.3:p.Tyr4431His
ENST00000354958.6:c.13225T>C	ENSP00000347044.2:p.Tyr4409His
ENST00000356346.7:c.13249T>C MANE Plus Clinical	ENSP00000348702.3:p.Tyr4417His
ENST00000357649.6:c.13303T>C	ENSP00000350277.2:p.Tyr4435His
ENST00000398774.6:c.13195T>C	ENSP00000381756.2:p.Tyr4399His
ENST00000436759.6:c.13372T>C	ENSP00000388180.2:p.Tyr4458His
ENST00000527096.5:c.13360T>C	ENSP00000434583.1:p.Tyr4454His
NM_000445.4:c.13372T>C	NP_000436.2:p.Tyr4458His
NM_201378.3:c.13249T>C	NP_958780.1:p.Tyr4417His
NM_201379.2:c.13225T>C	NP_958781.1:p.Tyr4409His
NM_201380.3:c.13702T>C	NP_958782.1:p.Tyr4568His
NM_201381.2:c.13195T>C	NP_958783.1:p.Tyr4399His
NM_201382.3:c.13291T>C	NP_958784.1:p.Tyr4431His
NM_201383.2:c.13303T>C	NP_958785.1:p.Tyr4435His
NM_201384.2:c.13291T>C	NP_958786.1:p.Tyr4431His
XM_005250976.2:c.13717T>C	XP_005251033.1:p.Tyr4573His
XM_005250978.2:c.13318T>C	XP_005251035.1:p.Tyr4440His
XM_005250979.3:c.13306T>C	XP_005251036.1:p.Tyr4436His
XM_005250980.3:c.13306T>C	XP_005251037.1:p.Tyr4436His
XM_005250981.2:c.13264T>C	XP_005251038.1:p.Tyr4422His
XM_005250982.2:c.13240T>C	XP_005251039.1:p.Tyr4414His
XM_005250983.2:c.13222T>C	XP_005251040.1:p.Tyr4408His
XM_005250984.3:c.13210T>C	XP_005251041.1:p.Tyr4404His
XM_006716588.2:c.13387T>C	XP_006716651.1:p.Tyr4463His
XM_006716589.2:c.13237T>C	XP_006716652.1:p.Tyr4413His
XM_006716590.2:c.13237T>C	XP_006716653.1:p.Tyr4413His
XM_011517130.1:c.13306T>C	XP_011515432.1:p.Tyr4436His
XM_011517131.1:c.13222T>C	XP_011515433.1:p.Tyr4408His
XM_011517132.1:c.9937T>C	XP_011515434.1:p.Tyr3313His
XM_005250976.4:c.13717T>C	XP_005251033.1:p.Tyr4573His
XM_005250978.3:c.13318T>C	XP_005251035.1:p.Tyr4440His
XM_005250979.4:c.13306T>C	XP_005251036.1:p.Tyr4436His
XM_005250980.4:c.13306T>C	XP_005251037.1:p.Tyr4436His
XM_005250981.3:c.13264T>C	XP_005251038.1:p.Tyr4422His
XM_005250982.4:c.13240T>C	XP_005251039.1:p.Tyr4414His
XM_005250984.5:c.13210T>C	XP_005251041.1:p.Tyr4404His
XM_006716588.3:c.13387T>C	XP_006716651.1:p.Tyr4463His
XM_006716590.3:c.13237T>C	XP_006716653.1:p.Tyr4413His
XM_011517130.2:c.13306T>C	XP_011515432.1:p.Tyr4436His
XM_011517131.2:c.13222T>C	XP_011515433.1:p.Tyr4408His
XM_011517132.2:c.9937T>C	XP_011515434.1:p.Tyr3313His
NM_000445.5:c.13372T>C	NP_000436.2:p.Tyr4458His
NM_201378.4:c.13249T>C MANE Plus Clinical	NP_958780.1:p.Tyr4417His
NM_201379.3:c.13225T>C	NP_958781.1:p.Tyr4409His
NM_201380.4:c.13702T>C	NP_958782.1:p.Tyr4568His
NM_201381.3:c.13195T>C	NP_958783.1:p.Tyr4399His
NM_201382.4:c.13291T>C	NP_958784.1:p.Tyr4431His
NM_201383.3:c.13303T>C	NP_958785.1:p.Tyr4435His
NM_201384.3:c.13291T>C MANE Select	NP_958786.1:p.Tyr4431His