Canonical Allele Identifier: CA4923848

Gene: PLEC

Linked Data

• ClinVar Variation Id: 741891
• ClinVar RCV Id: RCV001506262
• dbSNP Id: rs782293225
• ExAC: 8:144990693 G / A
• gnomAD v2: 8-144990693-G-A
• gnomAD v4: 8-143916525-G-A
• MyVariant Identifiers: chr8:g.144990693G>A (hg19) ; chr8:g.143916525G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916525G>A , CM000670.2:g.143916525G>A	GRCh38
NC_000008.10:g.144990693G>A , CM000670.1:g.144990693G>A	GRCh37
NC_000008.9:g.145062681G>A	NCBI36
NG_012492.1:g.65221C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000528025.6:c.13428C>T	ENSP00000437303.2:p.Ser4476=
ENST00000685198.1:c.13347C>T	ENSP00000510528.1:p.Ser4449=
ENST00000687971.1:c.13014C>T	ENSP00000510788.1:p.Ser4338=
ENST00000693060.1:c.13227C>T	ENSP00000510329.1:p.Ser4409=
ENST00000345136.8:c.13296C>T MANE Select	ENSP00000344848.3:p.Ser4432=
ENST00000527303.2:c.9996C>T	ENSP00000433982.2:p.Ser3332=
ENST00000322810.8:c.13707C>T	ENSP00000323856.4:p.Ser4569=
ENST00000345136.7:c.13296C>T	ENSP00000344848.3:p.Ser4432=
ENST00000354589.7:c.13296C>T	ENSP00000346602.3:p.Ser4432=
ENST00000354958.6:c.13230C>T	ENSP00000347044.2:p.Ser4410=
ENST00000356346.7:c.13254C>T MANE Plus Clinical	ENSP00000348702.3:p.Ser4418=
ENST00000357649.6:c.13308C>T	ENSP00000350277.2:p.Ser4436=
ENST00000398774.6:c.13200C>T	ENSP00000381756.2:p.Ser4400=
ENST00000436759.6:c.13377C>T	ENSP00000388180.2:p.Ser4459=
ENST00000527096.5:c.13365C>T	ENSP00000434583.1:p.Ser4455=
NM_000445.4:c.13377C>T	NP_000436.2:p.Ser4459=
NM_201378.3:c.13254C>T	NP_958780.1:p.Ser4418=
NM_201379.2:c.13230C>T	NP_958781.1:p.Ser4410=
NM_201380.3:c.13707C>T	NP_958782.1:p.Ser4569=
NM_201381.2:c.13200C>T	NP_958783.1:p.Ser4400=
NM_201382.3:c.13296C>T	NP_958784.1:p.Ser4432=
NM_201383.2:c.13308C>T	NP_958785.1:p.Ser4436=
NM_201384.2:c.13296C>T	NP_958786.1:p.Ser4432=
XM_005250976.2:c.13722C>T	XP_005251033.1:p.Ser4574=
XM_005250978.2:c.13323C>T	XP_005251035.1:p.Ser4441=
XM_005250979.3:c.13311C>T	XP_005251036.1:p.Ser4437=
XM_005250980.3:c.13311C>T	XP_005251037.1:p.Ser4437=
XM_005250981.2:c.13269C>T	XP_005251038.1:p.Ser4423=
XM_005250982.2:c.13245C>T	XP_005251039.1:p.Ser4415=
XM_005250983.2:c.13227C>T	XP_005251040.1:p.Ser4409=
XM_005250984.3:c.13215C>T	XP_005251041.1:p.Ser4405=
XM_006716588.2:c.13392C>T	XP_006716651.1:p.Ser4464=
XM_006716589.2:c.13242C>T	XP_006716652.1:p.Ser4414=
XM_006716590.2:c.13242C>T	XP_006716653.1:p.Ser4414=
XM_011517130.1:c.13311C>T	XP_011515432.1:p.Ser4437=
XM_011517131.1:c.13227C>T	XP_011515433.1:p.Ser4409=
XM_011517132.1:c.9942C>T	XP_011515434.1:p.Ser3314=
XM_005250976.4:c.13722C>T	XP_005251033.1:p.Ser4574=
XM_005250978.3:c.13323C>T	XP_005251035.1:p.Ser4441=
XM_005250979.4:c.13311C>T	XP_005251036.1:p.Ser4437=
XM_005250980.4:c.13311C>T	XP_005251037.1:p.Ser4437=
XM_005250981.3:c.13269C>T	XP_005251038.1:p.Ser4423=
XM_005250982.4:c.13245C>T	XP_005251039.1:p.Ser4415=
XM_005250984.5:c.13215C>T	XP_005251041.1:p.Ser4405=
XM_006716588.3:c.13392C>T	XP_006716651.1:p.Ser4464=
XM_006716590.3:c.13242C>T	XP_006716653.1:p.Ser4414=
XM_011517130.2:c.13311C>T	XP_011515432.1:p.Ser4437=
XM_011517131.2:c.13227C>T	XP_011515433.1:p.Ser4409=
XM_011517132.2:c.9942C>T	XP_011515434.1:p.Ser3314=
NM_000445.5:c.13377C>T	NP_000436.2:p.Ser4459=
NM_201378.4:c.13254C>T MANE Plus Clinical	NP_958780.1:p.Ser4418=
NM_201379.3:c.13230C>T	NP_958781.1:p.Ser4410=
NM_201380.4:c.13707C>T	NP_958782.1:p.Ser4569=
NM_201381.3:c.13200C>T	NP_958783.1:p.Ser4400=
NM_201382.4:c.13296C>T	NP_958784.1:p.Ser4432=
NM_201383.3:c.13308C>T	NP_958785.1:p.Ser4436=
NM_201384.3:c.13296C>T MANE Select	NP_958786.1:p.Ser4432=