Canonical Allele Identifier: CA463526249

Gene: PLEC

Linked Data

• gnomAD v4: 8-143916360-A-T
• MyVariant Identifiers: chr8:g.144990528A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916360A>T , CM000670.2:g.143916360A>T	GRCh38
NC_000008.10:g.144990528A>T , CM000670.1:g.144990528A>T	GRCh37
NC_000008.9:g.145062516A>T	NCBI36
NG_012492.1:g.65386T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13593T>A	ENSP00000437303.2:p.Ala4531=
ENST00000685198.1:c.13512T>A	ENSP00000510528.1:p.Ala4504=
ENST00000687971.1:c.13179T>A	ENSP00000510788.1:p.Ala4393=
ENST00000693060.1:c.13392T>A	ENSP00000510329.1:p.Ala4464=
ENST00000345136.8:c.13461T>A MANE Select	ENSP00000344848.3:p.Ala4487=
ENST00000527303.2:c.10161T>A	ENSP00000433982.2:p.Ala3387=
ENST00000322810.8:c.13872T>A	ENSP00000323856.4:p.Ala4624=
ENST00000345136.7:c.13461T>A	ENSP00000344848.3:p.Ala4487=
ENST00000354589.7:c.13461T>A	ENSP00000346602.3:p.Ala4487=
ENST00000354958.6:c.13395T>A	ENSP00000347044.2:p.Ala4465=
ENST00000356346.7:c.13419T>A MANE Plus Clinical	ENSP00000348702.3:p.Ala4473=
ENST00000357649.6:c.13473T>A	ENSP00000350277.2:p.Ala4491=
ENST00000398774.6:c.13365T>A	ENSP00000381756.2:p.Ala4455=
ENST00000436759.6:c.13542T>A	ENSP00000388180.2:p.Ala4514=
ENST00000527096.5:c.13530T>A	ENSP00000434583.1:p.Ala4510=
NM_000445.4:c.13542T>A	NP_000436.2:p.Ala4514=
NM_201378.3:c.13419T>A	NP_958780.1:p.Ala4473=
NM_201379.2:c.13395T>A	NP_958781.1:p.Ala4465=
NM_201380.3:c.13872T>A	NP_958782.1:p.Ala4624=
NM_201381.2:c.13365T>A	NP_958783.1:p.Ala4455=
NM_201382.3:c.13461T>A	NP_958784.1:p.Ala4487=
NM_201383.2:c.13473T>A	NP_958785.1:p.Ala4491=
NM_201384.2:c.13461T>A	NP_958786.1:p.Ala4487=
XM_005250976.2:c.13887T>A	XP_005251033.1:p.Ala4629=
XM_005250978.2:c.13488T>A	XP_005251035.1:p.Ala4496=
XM_005250979.3:c.13476T>A	XP_005251036.1:p.Ala4492=
XM_005250980.3:c.13476T>A	XP_005251037.1:p.Ala4492=
XM_005250981.2:c.13434T>A	XP_005251038.1:p.Ala4478=
XM_005250982.2:c.13410T>A	XP_005251039.1:p.Ala4470=
XM_005250983.2:c.13392T>A	XP_005251040.1:p.Ala4464=
XM_005250984.3:c.13380T>A	XP_005251041.1:p.Ala4460=
XM_006716588.2:c.13557T>A	XP_006716651.1:p.Ala4519=
XM_006716589.2:c.13407T>A	XP_006716652.1:p.Ala4469=
XM_006716590.2:c.13407T>A	XP_006716653.1:p.Ala4469=
XM_011517130.1:c.13476T>A	XP_011515432.1:p.Ala4492=
XM_011517131.1:c.13392T>A	XP_011515433.1:p.Ala4464=
XM_011517132.1:c.10107T>A	XP_011515434.1:p.Ala3369=
XM_005250976.4:c.13887T>A	XP_005251033.1:p.Ala4629=
XM_005250978.3:c.13488T>A	XP_005251035.1:p.Ala4496=
XM_005250979.4:c.13476T>A	XP_005251036.1:p.Ala4492=
XM_005250980.4:c.13476T>A	XP_005251037.1:p.Ala4492=
XM_005250981.3:c.13434T>A	XP_005251038.1:p.Ala4478=
XM_005250982.4:c.13410T>A	XP_005251039.1:p.Ala4470=
XM_005250984.5:c.13380T>A	XP_005251041.1:p.Ala4460=
XM_006716588.3:c.13557T>A	XP_006716651.1:p.Ala4519=
XM_006716590.3:c.13407T>A	XP_006716653.1:p.Ala4469=
XM_011517130.2:c.13476T>A	XP_011515432.1:p.Ala4492=
XM_011517131.2:c.13392T>A	XP_011515433.1:p.Ala4464=
XM_011517132.2:c.10107T>A	XP_011515434.1:p.Ala3369=
NM_000445.5:c.13542T>A	NP_000436.2:p.Ala4514=
NM_201378.4:c.13419T>A MANE Plus Clinical	NP_958780.1:p.Ala4473=
NM_201379.3:c.13395T>A	NP_958781.1:p.Ala4465=
NM_201380.4:c.13872T>A	NP_958782.1:p.Ala4624=
NM_201381.3:c.13365T>A	NP_958783.1:p.Ala4455=
NM_201382.4:c.13461T>A	NP_958784.1:p.Ala4487=
NM_201383.3:c.13473T>A	NP_958785.1:p.Ala4491=
NM_201384.3:c.13461T>A MANE Select	NP_958786.1:p.Ala4487=