Canonical Allele Identifier: CA372474578

Gene: PLEC

Linked Data

• dbSNP Id: rs1820567993
• gnomAD v4: 8-143916412-G-C
• MyVariant Identifiers: chr8:g.144990580G>C (hg19) ; chr8:g.143916412G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916412G>C , CM000670.2:g.143916412G>C	GRCh38
NC_000008.10:g.144990580G>C , CM000670.1:g.144990580G>C	GRCh37
NC_000008.9:g.145062568G>C	NCBI36
NG_012492.1:g.65334C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13541C>G	ENSP00000437303.2:p.Ser4514Cys
ENST00000685198.1:c.13460C>G	ENSP00000510528.1:p.Ser4487Cys
ENST00000687971.1:c.13127C>G	ENSP00000510788.1:p.Ser4376Cys
ENST00000693060.1:c.13340C>G	ENSP00000510329.1:p.Ser4447Cys
ENST00000345136.8:c.13409C>G MANE Select	ENSP00000344848.3:p.Ser4470Cys
ENST00000527303.2:c.10109C>G	ENSP00000433982.2:p.Ser3370Cys
ENST00000322810.8:c.13820C>G	ENSP00000323856.4:p.Ser4607Cys
ENST00000345136.7:c.13409C>G	ENSP00000344848.3:p.Ser4470Cys
ENST00000354589.7:c.13409C>G	ENSP00000346602.3:p.Ser4470Cys
ENST00000354958.6:c.13343C>G	ENSP00000347044.2:p.Ser4448Cys
ENST00000356346.7:c.13367C>G MANE Plus Clinical	ENSP00000348702.3:p.Ser4456Cys
ENST00000357649.6:c.13421C>G	ENSP00000350277.2:p.Ser4474Cys
ENST00000398774.6:c.13313C>G	ENSP00000381756.2:p.Ser4438Cys
ENST00000436759.6:c.13490C>G	ENSP00000388180.2:p.Ser4497Cys
ENST00000527096.5:c.13478C>G	ENSP00000434583.1:p.Ser4493Cys
NM_000445.4:c.13490C>G	NP_000436.2:p.Ser4497Cys
NM_201378.3:c.13367C>G	NP_958780.1:p.Ser4456Cys
NM_201379.2:c.13343C>G	NP_958781.1:p.Ser4448Cys
NM_201380.3:c.13820C>G	NP_958782.1:p.Ser4607Cys
NM_201381.2:c.13313C>G	NP_958783.1:p.Ser4438Cys
NM_201382.3:c.13409C>G	NP_958784.1:p.Ser4470Cys
NM_201383.2:c.13421C>G	NP_958785.1:p.Ser4474Cys
NM_201384.2:c.13409C>G	NP_958786.1:p.Ser4470Cys
XM_005250976.2:c.13835C>G	XP_005251033.1:p.Ser4612Cys
XM_005250978.2:c.13436C>G	XP_005251035.1:p.Ser4479Cys
XM_005250979.3:c.13424C>G	XP_005251036.1:p.Ser4475Cys
XM_005250980.3:c.13424C>G	XP_005251037.1:p.Ser4475Cys
XM_005250981.2:c.13382C>G	XP_005251038.1:p.Ser4461Cys
XM_005250982.2:c.13358C>G	XP_005251039.1:p.Ser4453Cys
XM_005250983.2:c.13340C>G	XP_005251040.1:p.Ser4447Cys
XM_005250984.3:c.13328C>G	XP_005251041.1:p.Ser4443Cys
XM_006716588.2:c.13505C>G	XP_006716651.1:p.Ser4502Cys
XM_006716589.2:c.13355C>G	XP_006716652.1:p.Ser4452Cys
XM_006716590.2:c.13355C>G	XP_006716653.1:p.Ser4452Cys
XM_011517130.1:c.13424C>G	XP_011515432.1:p.Ser4475Cys
XM_011517131.1:c.13340C>G	XP_011515433.1:p.Ser4447Cys
XM_011517132.1:c.10055C>G	XP_011515434.1:p.Ser3352Cys
XM_005250976.4:c.13835C>G	XP_005251033.1:p.Ser4612Cys
XM_005250978.3:c.13436C>G	XP_005251035.1:p.Ser4479Cys
XM_005250979.4:c.13424C>G	XP_005251036.1:p.Ser4475Cys
XM_005250980.4:c.13424C>G	XP_005251037.1:p.Ser4475Cys
XM_005250981.3:c.13382C>G	XP_005251038.1:p.Ser4461Cys
XM_005250982.4:c.13358C>G	XP_005251039.1:p.Ser4453Cys
XM_005250984.5:c.13328C>G	XP_005251041.1:p.Ser4443Cys
XM_006716588.3:c.13505C>G	XP_006716651.1:p.Ser4502Cys
XM_006716590.3:c.13355C>G	XP_006716653.1:p.Ser4452Cys
XM_011517130.2:c.13424C>G	XP_011515432.1:p.Ser4475Cys
XM_011517131.2:c.13340C>G	XP_011515433.1:p.Ser4447Cys
XM_011517132.2:c.10055C>G	XP_011515434.1:p.Ser3352Cys
NM_000445.5:c.13490C>G	NP_000436.2:p.Ser4497Cys
NM_201378.4:c.13367C>G MANE Plus Clinical	NP_958780.1:p.Ser4456Cys
NM_201379.3:c.13343C>G	NP_958781.1:p.Ser4448Cys
NM_201380.4:c.13820C>G	NP_958782.1:p.Ser4607Cys
NM_201381.3:c.13313C>G	NP_958783.1:p.Ser4438Cys
NM_201382.4:c.13409C>G	NP_958784.1:p.Ser4470Cys
NM_201383.3:c.13421C>G	NP_958785.1:p.Ser4474Cys
NM_201384.3:c.13409C>G MANE Select	NP_958786.1:p.Ser4470Cys