Canonical Allele Identifier: CA463526394
Gene: PLEC HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.144990570G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143916402G>C , CM000670.2:g.143916402G>C GRCh38
NC_000008.10:g.144990570G>C , CM000670.1:g.144990570G>C GRCh37
NC_000008.9:g.145062558G>C NCBI36
NG_012492.1:g.65344C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000528025.6:c.13551C>G ENSP00000437303.2:p.Gly4517=
ENST00000685198.1:c.13470C>G ENSP00000510528.1:p.Gly4490=
ENST00000687971.1:c.13137C>G ENSP00000510788.1:p.Gly4379=
ENST00000693060.1:c.13350C>G ENSP00000510329.1:p.Gly4450=
ENST00000345136.8:c.13419C>G MANE Select ENSP00000344848.3:p.Gly4473=
ENST00000527303.2:c.10119C>G ENSP00000433982.2:p.Gly3373=
ENST00000322810.8:c.13830C>G ENSP00000323856.4:p.Gly4610=
ENST00000345136.7:c.13419C>G ENSP00000344848.3:p.Gly4473=
ENST00000354589.7:c.13419C>G ENSP00000346602.3:p.Gly4473=
ENST00000354958.6:c.13353C>G ENSP00000347044.2:p.Gly4451=
ENST00000356346.7:c.13377C>G MANE Plus Clinical ENSP00000348702.3:p.Gly4459=
ENST00000357649.6:c.13431C>G ENSP00000350277.2:p.Gly4477=
ENST00000398774.6:c.13323C>G ENSP00000381756.2:p.Gly4441=
ENST00000436759.6:c.13500C>G ENSP00000388180.2:p.Gly4500=
ENST00000527096.5:c.13488C>G ENSP00000434583.1:p.Gly4496=
NM_000445.4:c.13500C>G NP_000436.2:p.Gly4500=
NM_201378.3:c.13377C>G NP_958780.1:p.Gly4459=
NM_201379.2:c.13353C>G NP_958781.1:p.Gly4451=
NM_201380.3:c.13830C>G NP_958782.1:p.Gly4610=
NM_201381.2:c.13323C>G NP_958783.1:p.Gly4441=
NM_201382.3:c.13419C>G NP_958784.1:p.Gly4473=
NM_201383.2:c.13431C>G NP_958785.1:p.Gly4477=
NM_201384.2:c.13419C>G NP_958786.1:p.Gly4473=
XM_005250976.2:c.13845C>G XP_005251033.1:p.Gly4615=
XM_005250978.2:c.13446C>G XP_005251035.1:p.Gly4482=
XM_005250979.3:c.13434C>G XP_005251036.1:p.Gly4478=
XM_005250980.3:c.13434C>G XP_005251037.1:p.Gly4478=
XM_005250981.2:c.13392C>G XP_005251038.1:p.Gly4464=
XM_005250982.2:c.13368C>G XP_005251039.1:p.Gly4456=
XM_005250983.2:c.13350C>G XP_005251040.1:p.Gly4450=
XM_005250984.3:c.13338C>G XP_005251041.1:p.Gly4446=
XM_006716588.2:c.13515C>G XP_006716651.1:p.Gly4505=
XM_006716589.2:c.13365C>G XP_006716652.1:p.Gly4455=
XM_006716590.2:c.13365C>G XP_006716653.1:p.Gly4455=
XM_011517130.1:c.13434C>G XP_011515432.1:p.Gly4478=
XM_011517131.1:c.13350C>G XP_011515433.1:p.Gly4450=
XM_011517132.1:c.10065C>G XP_011515434.1:p.Gly3355=
XM_005250976.4:c.13845C>G XP_005251033.1:p.Gly4615=
XM_005250978.3:c.13446C>G XP_005251035.1:p.Gly4482=
XM_005250979.4:c.13434C>G XP_005251036.1:p.Gly4478=
XM_005250980.4:c.13434C>G XP_005251037.1:p.Gly4478=
XM_005250981.3:c.13392C>G XP_005251038.1:p.Gly4464=
XM_005250982.4:c.13368C>G XP_005251039.1:p.Gly4456=
XM_005250984.5:c.13338C>G XP_005251041.1:p.Gly4446=
XM_006716588.3:c.13515C>G XP_006716651.1:p.Gly4505=
XM_006716590.3:c.13365C>G XP_006716653.1:p.Gly4455=
XM_011517130.2:c.13434C>G XP_011515432.1:p.Gly4478=
XM_011517131.2:c.13350C>G XP_011515433.1:p.Gly4450=
XM_011517132.2:c.10065C>G XP_011515434.1:p.Gly3355=
NM_000445.5:c.13500C>G NP_000436.2:p.Gly4500=
NM_201378.4:c.13377C>G MANE Plus Clinical NP_958780.1:p.Gly4459=
NM_201379.3:c.13353C>G NP_958781.1:p.Gly4451=
NM_201380.4:c.13830C>G NP_958782.1:p.Gly4610=
NM_201381.3:c.13323C>G NP_958783.1:p.Gly4441=
NM_201382.4:c.13419C>G NP_958784.1:p.Gly4473=
NM_201383.3:c.13431C>G NP_958785.1:p.Gly4477=
NM_201384.3:c.13419C>G MANE Select NP_958786.1:p.Gly4473=