Canonical Allele Identifier: CA4923850

Gene: PLEC

Linked Data

• dbSNP Id: rs782175749
• ExAC: 8:144990704 C / T
• gnomAD v2: 8-144990704-C-T
• gnomAD v4: 8-143916536-C-T
• MyVariant Identifiers: chr8:g.144990704C>T (hg19) ; chr8:g.143916536C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916536C>T , CM000670.2:g.143916536C>T	GRCh38
NC_000008.10:g.144990704C>T , CM000670.1:g.144990704C>T	GRCh37
NC_000008.9:g.145062692C>T	NCBI36
NG_012492.1:g.65210G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000528025.6:c.13417G>A	ENSP00000437303.2:p.Gly4473Ser
ENST00000685198.1:c.13336G>A	ENSP00000510528.1:p.Gly4446Ser
ENST00000687971.1:c.13003G>A	ENSP00000510788.1:p.Gly4335Ser
ENST00000693060.1:c.13216G>A	ENSP00000510329.1:p.Gly4406Ser
ENST00000345136.8:c.13285G>A MANE Select	ENSP00000344848.3:p.Gly4429Ser
ENST00000527303.2:c.9985G>A	ENSP00000433982.2:p.Gly3329Ser
ENST00000322810.8:c.13696G>A	ENSP00000323856.4:p.Gly4566Ser
ENST00000345136.7:c.13285G>A	ENSP00000344848.3:p.Gly4429Ser
ENST00000354589.7:c.13285G>A	ENSP00000346602.3:p.Gly4429Ser
ENST00000354958.6:c.13219G>A	ENSP00000347044.2:p.Gly4407Ser
ENST00000356346.7:c.13243G>A MANE Plus Clinical	ENSP00000348702.3:p.Gly4415Ser
ENST00000357649.6:c.13297G>A	ENSP00000350277.2:p.Gly4433Ser
ENST00000398774.6:c.13189G>A	ENSP00000381756.2:p.Gly4397Ser
ENST00000436759.6:c.13366G>A	ENSP00000388180.2:p.Gly4456Ser
ENST00000527096.5:c.13354G>A	ENSP00000434583.1:p.Gly4452Ser
NM_000445.4:c.13366G>A	NP_000436.2:p.Gly4456Ser
NM_201378.3:c.13243G>A	NP_958780.1:p.Gly4415Ser
NM_201379.2:c.13219G>A	NP_958781.1:p.Gly4407Ser
NM_201380.3:c.13696G>A	NP_958782.1:p.Gly4566Ser
NM_201381.2:c.13189G>A	NP_958783.1:p.Gly4397Ser
NM_201382.3:c.13285G>A	NP_958784.1:p.Gly4429Ser
NM_201383.2:c.13297G>A	NP_958785.1:p.Gly4433Ser
NM_201384.2:c.13285G>A	NP_958786.1:p.Gly4429Ser
XM_005250976.2:c.13711G>A	XP_005251033.1:p.Gly4571Ser
XM_005250978.2:c.13312G>A	XP_005251035.1:p.Gly4438Ser
XM_005250979.3:c.13300G>A	XP_005251036.1:p.Gly4434Ser
XM_005250980.3:c.13300G>A	XP_005251037.1:p.Gly4434Ser
XM_005250981.2:c.13258G>A	XP_005251038.1:p.Gly4420Ser
XM_005250982.2:c.13234G>A	XP_005251039.1:p.Gly4412Ser
XM_005250983.2:c.13216G>A	XP_005251040.1:p.Gly4406Ser
XM_005250984.3:c.13204G>A	XP_005251041.1:p.Gly4402Ser
XM_006716588.2:c.13381G>A	XP_006716651.1:p.Gly4461Ser
XM_006716589.2:c.13231G>A	XP_006716652.1:p.Gly4411Ser
XM_006716590.2:c.13231G>A	XP_006716653.1:p.Gly4411Ser
XM_011517130.1:c.13300G>A	XP_011515432.1:p.Gly4434Ser
XM_011517131.1:c.13216G>A	XP_011515433.1:p.Gly4406Ser
XM_011517132.1:c.9931G>A	XP_011515434.1:p.Gly3311Ser
XM_005250976.4:c.13711G>A	XP_005251033.1:p.Gly4571Ser
XM_005250978.3:c.13312G>A	XP_005251035.1:p.Gly4438Ser
XM_005250979.4:c.13300G>A	XP_005251036.1:p.Gly4434Ser
XM_005250980.4:c.13300G>A	XP_005251037.1:p.Gly4434Ser
XM_005250981.3:c.13258G>A	XP_005251038.1:p.Gly4420Ser
XM_005250982.4:c.13234G>A	XP_005251039.1:p.Gly4412Ser
XM_005250984.5:c.13204G>A	XP_005251041.1:p.Gly4402Ser
XM_006716588.3:c.13381G>A	XP_006716651.1:p.Gly4461Ser
XM_006716590.3:c.13231G>A	XP_006716653.1:p.Gly4411Ser
XM_011517130.2:c.13300G>A	XP_011515432.1:p.Gly4434Ser
XM_011517131.2:c.13216G>A	XP_011515433.1:p.Gly4406Ser
XM_011517132.2:c.9931G>A	XP_011515434.1:p.Gly3311Ser
NM_000445.5:c.13366G>A	NP_000436.2:p.Gly4456Ser
NM_201378.4:c.13243G>A MANE Plus Clinical	NP_958780.1:p.Gly4415Ser
NM_201379.3:c.13219G>A	NP_958781.1:p.Gly4407Ser
NM_201380.4:c.13696G>A	NP_958782.1:p.Gly4566Ser
NM_201381.3:c.13189G>A	NP_958783.1:p.Gly4397Ser
NM_201382.4:c.13285G>A	NP_958784.1:p.Gly4429Ser
NM_201383.3:c.13297G>A	NP_958785.1:p.Gly4433Ser
NM_201384.3:c.13285G>A MANE Select	NP_958786.1:p.Gly4429Ser