Canonical Allele Identifier: CA463525667

Gene: PLEC

Linked Data

• dbSNP Id: rs2130796709
• gnomAD v4: 8-143916528-G-A
• MyVariant Identifiers: chr8:g.144990696G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916528G>A , CM000670.2:g.143916528G>A	GRCh38
NC_000008.10:g.144990696G>A , CM000670.1:g.144990696G>A	GRCh37
NC_000008.9:g.145062684G>A	NCBI36
NG_012492.1:g.65218C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13425C>T	ENSP00000437303.2:p.Tyr4475=
ENST00000685198.1:c.13344C>T	ENSP00000510528.1:p.Tyr4448=
ENST00000687971.1:c.13011C>T	ENSP00000510788.1:p.Tyr4337=
ENST00000693060.1:c.13224C>T	ENSP00000510329.1:p.Tyr4408=
ENST00000345136.8:c.13293C>T MANE Select	ENSP00000344848.3:p.Tyr4431=
ENST00000527303.2:c.9993C>T	ENSP00000433982.2:p.Tyr3331=
ENST00000322810.8:c.13704C>T	ENSP00000323856.4:p.Tyr4568=
ENST00000345136.7:c.13293C>T	ENSP00000344848.3:p.Tyr4431=
ENST00000354589.7:c.13293C>T	ENSP00000346602.3:p.Tyr4431=
ENST00000354958.6:c.13227C>T	ENSP00000347044.2:p.Tyr4409=
ENST00000356346.7:c.13251C>T MANE Plus Clinical	ENSP00000348702.3:p.Tyr4417=
ENST00000357649.6:c.13305C>T	ENSP00000350277.2:p.Tyr4435=
ENST00000398774.6:c.13197C>T	ENSP00000381756.2:p.Tyr4399=
ENST00000436759.6:c.13374C>T	ENSP00000388180.2:p.Tyr4458=
ENST00000527096.5:c.13362C>T	ENSP00000434583.1:p.Tyr4454=
NM_000445.4:c.13374C>T	NP_000436.2:p.Tyr4458=
NM_201378.3:c.13251C>T	NP_958780.1:p.Tyr4417=
NM_201379.2:c.13227C>T	NP_958781.1:p.Tyr4409=
NM_201380.3:c.13704C>T	NP_958782.1:p.Tyr4568=
NM_201381.2:c.13197C>T	NP_958783.1:p.Tyr4399=
NM_201382.3:c.13293C>T	NP_958784.1:p.Tyr4431=
NM_201383.2:c.13305C>T	NP_958785.1:p.Tyr4435=
NM_201384.2:c.13293C>T	NP_958786.1:p.Tyr4431=
XM_005250976.2:c.13719C>T	XP_005251033.1:p.Tyr4573=
XM_005250978.2:c.13320C>T	XP_005251035.1:p.Tyr4440=
XM_005250979.3:c.13308C>T	XP_005251036.1:p.Tyr4436=
XM_005250980.3:c.13308C>T	XP_005251037.1:p.Tyr4436=
XM_005250981.2:c.13266C>T	XP_005251038.1:p.Tyr4422=
XM_005250982.2:c.13242C>T	XP_005251039.1:p.Tyr4414=
XM_005250983.2:c.13224C>T	XP_005251040.1:p.Tyr4408=
XM_005250984.3:c.13212C>T	XP_005251041.1:p.Tyr4404=
XM_006716588.2:c.13389C>T	XP_006716651.1:p.Tyr4463=
XM_006716589.2:c.13239C>T	XP_006716652.1:p.Tyr4413=
XM_006716590.2:c.13239C>T	XP_006716653.1:p.Tyr4413=
XM_011517130.1:c.13308C>T	XP_011515432.1:p.Tyr4436=
XM_011517131.1:c.13224C>T	XP_011515433.1:p.Tyr4408=
XM_011517132.1:c.9939C>T	XP_011515434.1:p.Tyr3313=
XM_005250976.4:c.13719C>T	XP_005251033.1:p.Tyr4573=
XM_005250978.3:c.13320C>T	XP_005251035.1:p.Tyr4440=
XM_005250979.4:c.13308C>T	XP_005251036.1:p.Tyr4436=
XM_005250980.4:c.13308C>T	XP_005251037.1:p.Tyr4436=
XM_005250981.3:c.13266C>T	XP_005251038.1:p.Tyr4422=
XM_005250982.4:c.13242C>T	XP_005251039.1:p.Tyr4414=
XM_005250984.5:c.13212C>T	XP_005251041.1:p.Tyr4404=
XM_006716588.3:c.13389C>T	XP_006716651.1:p.Tyr4463=
XM_006716590.3:c.13239C>T	XP_006716653.1:p.Tyr4413=
XM_011517130.2:c.13308C>T	XP_011515432.1:p.Tyr4436=
XM_011517131.2:c.13224C>T	XP_011515433.1:p.Tyr4408=
XM_011517132.2:c.9939C>T	XP_011515434.1:p.Tyr3313=
NM_000445.5:c.13374C>T	NP_000436.2:p.Tyr4458=
NM_201378.4:c.13251C>T MANE Plus Clinical	NP_958780.1:p.Tyr4417=
NM_201379.3:c.13227C>T	NP_958781.1:p.Tyr4409=
NM_201380.4:c.13704C>T	NP_958782.1:p.Tyr4568=
NM_201381.3:c.13197C>T	NP_958783.1:p.Tyr4399=
NM_201382.4:c.13293C>T	NP_958784.1:p.Tyr4431=
NM_201383.3:c.13305C>T	NP_958785.1:p.Tyr4435=
NM_201384.3:c.13293C>T MANE Select	NP_958786.1:p.Tyr4431=