Canonical Allele Identifier: CA372476160

Gene: PLEC

Linked Data

• MyVariant Identifiers: chr8:g.144990813G>C (hg19) ; chr8:g.143916645G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916645G>C , CM000670.2:g.143916645G>C	GRCh38
NC_000008.10:g.144990813G>C , CM000670.1:g.144990813G>C	GRCh37
NC_000008.9:g.145062801G>C	NCBI36
NG_012492.1:g.65101C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13308C>G	ENSP00000437303.2:p.Tyr4436Ter
ENST00000685198.1:c.13227C>G	ENSP00000510528.1:p.Tyr4409Ter
ENST00000687971.1:c.12894C>G	ENSP00000510788.1:p.Tyr4298Ter
ENST00000693060.1:c.13107C>G	ENSP00000510329.1:p.Tyr4369Ter
ENST00000345136.8:c.13176C>G MANE Select	ENSP00000344848.3:p.Tyr4392Ter
ENST00000527303.2:c.9876C>G	ENSP00000433982.2:p.Tyr3292Ter
ENST00000322810.8:c.13587C>G	ENSP00000323856.4:p.Tyr4529Ter
ENST00000345136.7:c.13176C>G	ENSP00000344848.3:p.Tyr4392Ter
ENST00000354589.7:c.13176C>G	ENSP00000346602.3:p.Tyr4392Ter
ENST00000354958.6:c.13110C>G	ENSP00000347044.2:p.Tyr4370Ter
ENST00000356346.7:c.13134C>G MANE Plus Clinical	ENSP00000348702.3:p.Tyr4378Ter
ENST00000357649.6:c.13188C>G	ENSP00000350277.2:p.Tyr4396Ter
ENST00000398774.6:c.13080C>G	ENSP00000381756.2:p.Tyr4360Ter
ENST00000436759.6:c.13257C>G	ENSP00000388180.2:p.Tyr4419Ter
ENST00000527096.5:c.13245C>G	ENSP00000434583.1:p.Tyr4415Ter
NM_000445.4:c.13257C>G	NP_000436.2:p.Tyr4419Ter
NM_201378.3:c.13134C>G	NP_958780.1:p.Tyr4378Ter
NM_201379.2:c.13110C>G	NP_958781.1:p.Tyr4370Ter
NM_201380.3:c.13587C>G	NP_958782.1:p.Tyr4529Ter
NM_201381.2:c.13080C>G	NP_958783.1:p.Tyr4360Ter
NM_201382.3:c.13176C>G	NP_958784.1:p.Tyr4392Ter
NM_201383.2:c.13188C>G	NP_958785.1:p.Tyr4396Ter
NM_201384.2:c.13176C>G	NP_958786.1:p.Tyr4392Ter
XM_005250976.2:c.13602C>G	XP_005251033.1:p.Tyr4534Ter
XM_005250978.2:c.13203C>G	XP_005251035.1:p.Tyr4401Ter
XM_005250979.3:c.13191C>G	XP_005251036.1:p.Tyr4397Ter
XM_005250980.3:c.13191C>G	XP_005251037.1:p.Tyr4397Ter
XM_005250981.2:c.13149C>G	XP_005251038.1:p.Tyr4383Ter
XM_005250982.2:c.13125C>G	XP_005251039.1:p.Tyr4375Ter
XM_005250983.2:c.13107C>G	XP_005251040.1:p.Tyr4369Ter
XM_005250984.3:c.13095C>G	XP_005251041.1:p.Tyr4365Ter
XM_006716588.2:c.13272C>G	XP_006716651.1:p.Tyr4424Ter
XM_006716589.2:c.13122C>G	XP_006716652.1:p.Tyr4374Ter
XM_006716590.2:c.13122C>G	XP_006716653.1:p.Tyr4374Ter
XM_011517130.1:c.13191C>G	XP_011515432.1:p.Tyr4397Ter
XM_011517131.1:c.13107C>G	XP_011515433.1:p.Tyr4369Ter
XM_011517132.1:c.9822C>G	XP_011515434.1:p.Tyr3274Ter
XM_005250976.4:c.13602C>G	XP_005251033.1:p.Tyr4534Ter
XM_005250978.3:c.13203C>G	XP_005251035.1:p.Tyr4401Ter
XM_005250979.4:c.13191C>G	XP_005251036.1:p.Tyr4397Ter
XM_005250980.4:c.13191C>G	XP_005251037.1:p.Tyr4397Ter
XM_005250981.3:c.13149C>G	XP_005251038.1:p.Tyr4383Ter
XM_005250982.4:c.13125C>G	XP_005251039.1:p.Tyr4375Ter
XM_005250984.5:c.13095C>G	XP_005251041.1:p.Tyr4365Ter
XM_006716588.3:c.13272C>G	XP_006716651.1:p.Tyr4424Ter
XM_006716590.3:c.13122C>G	XP_006716653.1:p.Tyr4374Ter
XM_011517130.2:c.13191C>G	XP_011515432.1:p.Tyr4397Ter
XM_011517131.2:c.13107C>G	XP_011515433.1:p.Tyr4369Ter
XM_011517132.2:c.9822C>G	XP_011515434.1:p.Tyr3274Ter
NM_000445.5:c.13257C>G	NP_000436.2:p.Tyr4419Ter
NM_201378.4:c.13134C>G MANE Plus Clinical	NP_958780.1:p.Tyr4378Ter
NM_201379.3:c.13110C>G	NP_958781.1:p.Tyr4370Ter
NM_201380.4:c.13587C>G	NP_958782.1:p.Tyr4529Ter
NM_201381.3:c.13080C>G	NP_958783.1:p.Tyr4360Ter
NM_201382.4:c.13176C>G	NP_958784.1:p.Tyr4392Ter
NM_201383.3:c.13188C>G	NP_958785.1:p.Tyr4396Ter
NM_201384.3:c.13176C>G MANE Select	NP_958786.1:p.Tyr4392Ter