Canonical Allele Identifier: CA372475992

Gene: PLEC

Linked Data

• MyVariant Identifiers: chr8:g.144990785T>C (hg19) ; chr8:g.143916617T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916617T>C , CM000670.2:g.143916617T>C	GRCh38
NC_000008.10:g.144990785T>C , CM000670.1:g.144990785T>C	GRCh37
NC_000008.9:g.145062773T>C	NCBI36
NG_012492.1:g.65129A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13336A>G	ENSP00000437303.2:p.Thr4446Ala
ENST00000685198.1:c.13255A>G	ENSP00000510528.1:p.Thr4419Ala
ENST00000687971.1:c.12922A>G	ENSP00000510788.1:p.Thr4308Ala
ENST00000693060.1:c.13135A>G	ENSP00000510329.1:p.Thr4379Ala
ENST00000345136.8:c.13204A>G MANE Select	ENSP00000344848.3:p.Thr4402Ala
ENST00000527303.2:c.9904A>G	ENSP00000433982.2:p.Thr3302Ala
ENST00000322810.8:c.13615A>G	ENSP00000323856.4:p.Thr4539Ala
ENST00000345136.7:c.13204A>G	ENSP00000344848.3:p.Thr4402Ala
ENST00000354589.7:c.13204A>G	ENSP00000346602.3:p.Thr4402Ala
ENST00000354958.6:c.13138A>G	ENSP00000347044.2:p.Thr4380Ala
ENST00000356346.7:c.13162A>G MANE Plus Clinical	ENSP00000348702.3:p.Thr4388Ala
ENST00000357649.6:c.13216A>G	ENSP00000350277.2:p.Thr4406Ala
ENST00000398774.6:c.13108A>G	ENSP00000381756.2:p.Thr4370Ala
ENST00000436759.6:c.13285A>G	ENSP00000388180.2:p.Thr4429Ala
ENST00000527096.5:c.13273A>G	ENSP00000434583.1:p.Thr4425Ala
NM_000445.4:c.13285A>G	NP_000436.2:p.Thr4429Ala
NM_201378.3:c.13162A>G	NP_958780.1:p.Thr4388Ala
NM_201379.2:c.13138A>G	NP_958781.1:p.Thr4380Ala
NM_201380.3:c.13615A>G	NP_958782.1:p.Thr4539Ala
NM_201381.2:c.13108A>G	NP_958783.1:p.Thr4370Ala
NM_201382.3:c.13204A>G	NP_958784.1:p.Thr4402Ala
NM_201383.2:c.13216A>G	NP_958785.1:p.Thr4406Ala
NM_201384.2:c.13204A>G	NP_958786.1:p.Thr4402Ala
XM_005250976.2:c.13630A>G	XP_005251033.1:p.Thr4544Ala
XM_005250978.2:c.13231A>G	XP_005251035.1:p.Thr4411Ala
XM_005250979.3:c.13219A>G	XP_005251036.1:p.Thr4407Ala
XM_005250980.3:c.13219A>G	XP_005251037.1:p.Thr4407Ala
XM_005250981.2:c.13177A>G	XP_005251038.1:p.Thr4393Ala
XM_005250982.2:c.13153A>G	XP_005251039.1:p.Thr4385Ala
XM_005250983.2:c.13135A>G	XP_005251040.1:p.Thr4379Ala
XM_005250984.3:c.13123A>G	XP_005251041.1:p.Thr4375Ala
XM_006716588.2:c.13300A>G	XP_006716651.1:p.Thr4434Ala
XM_006716589.2:c.13150A>G	XP_006716652.1:p.Thr4384Ala
XM_006716590.2:c.13150A>G	XP_006716653.1:p.Thr4384Ala
XM_011517130.1:c.13219A>G	XP_011515432.1:p.Thr4407Ala
XM_011517131.1:c.13135A>G	XP_011515433.1:p.Thr4379Ala
XM_011517132.1:c.9850A>G	XP_011515434.1:p.Thr3284Ala
XM_005250976.4:c.13630A>G	XP_005251033.1:p.Thr4544Ala
XM_005250978.3:c.13231A>G	XP_005251035.1:p.Thr4411Ala
XM_005250979.4:c.13219A>G	XP_005251036.1:p.Thr4407Ala
XM_005250980.4:c.13219A>G	XP_005251037.1:p.Thr4407Ala
XM_005250981.3:c.13177A>G	XP_005251038.1:p.Thr4393Ala
XM_005250982.4:c.13153A>G	XP_005251039.1:p.Thr4385Ala
XM_005250984.5:c.13123A>G	XP_005251041.1:p.Thr4375Ala
XM_006716588.3:c.13300A>G	XP_006716651.1:p.Thr4434Ala
XM_006716590.3:c.13150A>G	XP_006716653.1:p.Thr4384Ala
XM_011517130.2:c.13219A>G	XP_011515432.1:p.Thr4407Ala
XM_011517131.2:c.13135A>G	XP_011515433.1:p.Thr4379Ala
XM_011517132.2:c.9850A>G	XP_011515434.1:p.Thr3284Ala
NM_000445.5:c.13285A>G	NP_000436.2:p.Thr4429Ala
NM_201378.4:c.13162A>G MANE Plus Clinical	NP_958780.1:p.Thr4388Ala
NM_201379.3:c.13138A>G	NP_958781.1:p.Thr4380Ala
NM_201380.4:c.13615A>G	NP_958782.1:p.Thr4539Ala
NM_201381.3:c.13108A>G	NP_958783.1:p.Thr4370Ala
NM_201382.4:c.13204A>G	NP_958784.1:p.Thr4402Ala
NM_201383.3:c.13216A>G	NP_958785.1:p.Thr4406Ala
NM_201384.3:c.13204A>G MANE Select	NP_958786.1:p.Thr4402Ala