Canonical Allele Identifier: CA372474658
Gene: PLEC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143916431G>C , CM000670.2:g.143916431G>C GRCh38
NC_000008.10:g.144990599G>C , CM000670.1:g.144990599G>C GRCh37
NC_000008.9:g.145062587G>C NCBI36
NG_012492.1:g.65315C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000528025.6:c.13522C>G ENSP00000437303.2:p.Leu4508Val
ENST00000685198.1:c.13441C>G ENSP00000510528.1:p.Leu4481Val
ENST00000687971.1:c.13108C>G ENSP00000510788.1:p.Leu4370Val
ENST00000693060.1:c.13321C>G ENSP00000510329.1:p.Leu4441Val
ENST00000345136.8:c.13390C>G MANE Select ENSP00000344848.3:p.Leu4464Val
ENST00000527303.2:c.10090C>G ENSP00000433982.2:p.Leu3364Val
ENST00000322810.8:c.13801C>G ENSP00000323856.4:p.Leu4601Val
ENST00000345136.7:c.13390C>G ENSP00000344848.3:p.Leu4464Val
ENST00000354589.7:c.13390C>G ENSP00000346602.3:p.Leu4464Val
ENST00000354958.6:c.13324C>G ENSP00000347044.2:p.Leu4442Val
ENST00000356346.7:c.13348C>G MANE Plus Clinical ENSP00000348702.3:p.Leu4450Val
ENST00000357649.6:c.13402C>G ENSP00000350277.2:p.Leu4468Val
ENST00000398774.6:c.13294C>G ENSP00000381756.2:p.Leu4432Val
ENST00000436759.6:c.13471C>G ENSP00000388180.2:p.Leu4491Val
ENST00000527096.5:c.13459C>G ENSP00000434583.1:p.Leu4487Val
NM_000445.4:c.13471C>G NP_000436.2:p.Leu4491Val
NM_201378.3:c.13348C>G NP_958780.1:p.Leu4450Val
NM_201379.2:c.13324C>G NP_958781.1:p.Leu4442Val
NM_201380.3:c.13801C>G NP_958782.1:p.Leu4601Val
NM_201381.2:c.13294C>G NP_958783.1:p.Leu4432Val
NM_201382.3:c.13390C>G NP_958784.1:p.Leu4464Val
NM_201383.2:c.13402C>G NP_958785.1:p.Leu4468Val
NM_201384.2:c.13390C>G NP_958786.1:p.Leu4464Val
XM_005250976.2:c.13816C>G XP_005251033.1:p.Leu4606Val
XM_005250978.2:c.13417C>G XP_005251035.1:p.Leu4473Val
XM_005250979.3:c.13405C>G XP_005251036.1:p.Leu4469Val
XM_005250980.3:c.13405C>G XP_005251037.1:p.Leu4469Val
XM_005250981.2:c.13363C>G XP_005251038.1:p.Leu4455Val
XM_005250982.2:c.13339C>G XP_005251039.1:p.Leu4447Val
XM_005250983.2:c.13321C>G XP_005251040.1:p.Leu4441Val
XM_005250984.3:c.13309C>G XP_005251041.1:p.Leu4437Val
XM_006716588.2:c.13486C>G XP_006716651.1:p.Leu4496Val
XM_006716589.2:c.13336C>G XP_006716652.1:p.Leu4446Val
XM_006716590.2:c.13336C>G XP_006716653.1:p.Leu4446Val
XM_011517130.1:c.13405C>G XP_011515432.1:p.Leu4469Val
XM_011517131.1:c.13321C>G XP_011515433.1:p.Leu4441Val
XM_011517132.1:c.10036C>G XP_011515434.1:p.Leu3346Val
XM_005250976.4:c.13816C>G XP_005251033.1:p.Leu4606Val
XM_005250978.3:c.13417C>G XP_005251035.1:p.Leu4473Val
XM_005250979.4:c.13405C>G XP_005251036.1:p.Leu4469Val
XM_005250980.4:c.13405C>G XP_005251037.1:p.Leu4469Val
XM_005250981.3:c.13363C>G XP_005251038.1:p.Leu4455Val
XM_005250982.4:c.13339C>G XP_005251039.1:p.Leu4447Val
XM_005250984.5:c.13309C>G XP_005251041.1:p.Leu4437Val
XM_006716588.3:c.13486C>G XP_006716651.1:p.Leu4496Val
XM_006716590.3:c.13336C>G XP_006716653.1:p.Leu4446Val
XM_011517130.2:c.13405C>G XP_011515432.1:p.Leu4469Val
XM_011517131.2:c.13321C>G XP_011515433.1:p.Leu4441Val
XM_011517132.2:c.10036C>G XP_011515434.1:p.Leu3346Val
NM_000445.5:c.13471C>G NP_000436.2:p.Leu4491Val
NM_201378.4:c.13348C>G MANE Plus Clinical NP_958780.1:p.Leu4450Val
NM_201379.3:c.13324C>G NP_958781.1:p.Leu4442Val
NM_201380.4:c.13801C>G NP_958782.1:p.Leu4601Val
NM_201381.3:c.13294C>G NP_958783.1:p.Leu4432Val
NM_201382.4:c.13390C>G NP_958784.1:p.Leu4464Val
NM_201383.3:c.13402C>G NP_958785.1:p.Leu4468Val
NM_201384.3:c.13390C>G MANE Select NP_958786.1:p.Leu4464Val