Canonical Allele Identifier: CA372475709
Gene: PLEC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143916527A>G , CM000670.2:g.143916527A>G GRCh38
NC_000008.10:g.144990695A>G , CM000670.1:g.144990695A>G GRCh37
NC_000008.9:g.145062683A>G NCBI36
NG_012492.1:g.65219T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000528025.6:c.13426T>C ENSP00000437303.2:p.Ser4476Pro
ENST00000685198.1:c.13345T>C ENSP00000510528.1:p.Ser4449Pro
ENST00000687971.1:c.13012T>C ENSP00000510788.1:p.Ser4338Pro
ENST00000693060.1:c.13225T>C ENSP00000510329.1:p.Ser4409Pro
ENST00000345136.8:c.13294T>C MANE Select ENSP00000344848.3:p.Ser4432Pro
ENST00000527303.2:c.9994T>C ENSP00000433982.2:p.Ser3332Pro
ENST00000322810.8:c.13705T>C ENSP00000323856.4:p.Ser4569Pro
ENST00000345136.7:c.13294T>C ENSP00000344848.3:p.Ser4432Pro
ENST00000354589.7:c.13294T>C ENSP00000346602.3:p.Ser4432Pro
ENST00000354958.6:c.13228T>C ENSP00000347044.2:p.Ser4410Pro
ENST00000356346.7:c.13252T>C MANE Plus Clinical ENSP00000348702.3:p.Ser4418Pro
ENST00000357649.6:c.13306T>C ENSP00000350277.2:p.Ser4436Pro
ENST00000398774.6:c.13198T>C ENSP00000381756.2:p.Ser4400Pro
ENST00000436759.6:c.13375T>C ENSP00000388180.2:p.Ser4459Pro
ENST00000527096.5:c.13363T>C ENSP00000434583.1:p.Ser4455Pro
NM_000445.4:c.13375T>C NP_000436.2:p.Ser4459Pro
NM_201378.3:c.13252T>C NP_958780.1:p.Ser4418Pro
NM_201379.2:c.13228T>C NP_958781.1:p.Ser4410Pro
NM_201380.3:c.13705T>C NP_958782.1:p.Ser4569Pro
NM_201381.2:c.13198T>C NP_958783.1:p.Ser4400Pro
NM_201382.3:c.13294T>C NP_958784.1:p.Ser4432Pro
NM_201383.2:c.13306T>C NP_958785.1:p.Ser4436Pro
NM_201384.2:c.13294T>C NP_958786.1:p.Ser4432Pro
XM_005250976.2:c.13720T>C XP_005251033.1:p.Ser4574Pro
XM_005250978.2:c.13321T>C XP_005251035.1:p.Ser4441Pro
XM_005250979.3:c.13309T>C XP_005251036.1:p.Ser4437Pro
XM_005250980.3:c.13309T>C XP_005251037.1:p.Ser4437Pro
XM_005250981.2:c.13267T>C XP_005251038.1:p.Ser4423Pro
XM_005250982.2:c.13243T>C XP_005251039.1:p.Ser4415Pro
XM_005250983.2:c.13225T>C XP_005251040.1:p.Ser4409Pro
XM_005250984.3:c.13213T>C XP_005251041.1:p.Ser4405Pro
XM_006716588.2:c.13390T>C XP_006716651.1:p.Ser4464Pro
XM_006716589.2:c.13240T>C XP_006716652.1:p.Ser4414Pro
XM_006716590.2:c.13240T>C XP_006716653.1:p.Ser4414Pro
XM_011517130.1:c.13309T>C XP_011515432.1:p.Ser4437Pro
XM_011517131.1:c.13225T>C XP_011515433.1:p.Ser4409Pro
XM_011517132.1:c.9940T>C XP_011515434.1:p.Ser3314Pro
XM_005250976.4:c.13720T>C XP_005251033.1:p.Ser4574Pro
XM_005250978.3:c.13321T>C XP_005251035.1:p.Ser4441Pro
XM_005250979.4:c.13309T>C XP_005251036.1:p.Ser4437Pro
XM_005250980.4:c.13309T>C XP_005251037.1:p.Ser4437Pro
XM_005250981.3:c.13267T>C XP_005251038.1:p.Ser4423Pro
XM_005250982.4:c.13243T>C XP_005251039.1:p.Ser4415Pro
XM_005250984.5:c.13213T>C XP_005251041.1:p.Ser4405Pro
XM_006716588.3:c.13390T>C XP_006716651.1:p.Ser4464Pro
XM_006716590.3:c.13240T>C XP_006716653.1:p.Ser4414Pro
XM_011517130.2:c.13309T>C XP_011515432.1:p.Ser4437Pro
XM_011517131.2:c.13225T>C XP_011515433.1:p.Ser4409Pro
XM_011517132.2:c.9940T>C XP_011515434.1:p.Ser3314Pro
NM_000445.5:c.13375T>C NP_000436.2:p.Ser4459Pro
NM_201378.4:c.13252T>C MANE Plus Clinical NP_958780.1:p.Ser4418Pro
NM_201379.3:c.13228T>C NP_958781.1:p.Ser4410Pro
NM_201380.4:c.13705T>C NP_958782.1:p.Ser4569Pro
NM_201381.3:c.13198T>C NP_958783.1:p.Ser4400Pro
NM_201382.4:c.13294T>C NP_958784.1:p.Ser4432Pro
NM_201383.3:c.13306T>C NP_958785.1:p.Ser4436Pro
NM_201384.3:c.13294T>C MANE Select NP_958786.1:p.Ser4432Pro