Canonical Allele Identifier: CA463525686

Gene: PLEC

Linked Data

• dbSNP Id: rs782714544
• MyVariant Identifiers: chr8:g.144990723T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916555T>G , CM000670.2:g.143916555T>G	GRCh38
NC_000008.10:g.144990723T>G , CM000670.1:g.144990723T>G	GRCh37
NC_000008.9:g.145062711T>G	NCBI36
NG_012492.1:g.65191A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13398A>C	ENSP00000437303.2:p.Ala4466=
ENST00000685198.1:c.13317A>C	ENSP00000510528.1:p.Ala4439=
ENST00000687971.1:c.12984A>C	ENSP00000510788.1:p.Ala4328=
ENST00000693060.1:c.13197A>C	ENSP00000510329.1:p.Ala4399=
ENST00000345136.8:c.13266A>C MANE Select	ENSP00000344848.3:p.Ala4422=
ENST00000527303.2:c.9966A>C	ENSP00000433982.2:p.Ala3322=
ENST00000322810.8:c.13677A>C	ENSP00000323856.4:p.Ala4559=
ENST00000345136.7:c.13266A>C	ENSP00000344848.3:p.Ala4422=
ENST00000354589.7:c.13266A>C	ENSP00000346602.3:p.Ala4422=
ENST00000354958.6:c.13200A>C	ENSP00000347044.2:p.Ala4400=
ENST00000356346.7:c.13224A>C MANE Plus Clinical	ENSP00000348702.3:p.Ala4408=
ENST00000357649.6:c.13278A>C	ENSP00000350277.2:p.Ala4426=
ENST00000398774.6:c.13170A>C	ENSP00000381756.2:p.Ala4390=
ENST00000436759.6:c.13347A>C	ENSP00000388180.2:p.Ala4449=
ENST00000527096.5:c.13335A>C	ENSP00000434583.1:p.Ala4445=
NM_000445.4:c.13347A>C	NP_000436.2:p.Ala4449=
NM_201378.3:c.13224A>C	NP_958780.1:p.Ala4408=
NM_201379.2:c.13200A>C	NP_958781.1:p.Ala4400=
NM_201380.3:c.13677A>C	NP_958782.1:p.Ala4559=
NM_201381.2:c.13170A>C	NP_958783.1:p.Ala4390=
NM_201382.3:c.13266A>C	NP_958784.1:p.Ala4422=
NM_201383.2:c.13278A>C	NP_958785.1:p.Ala4426=
NM_201384.2:c.13266A>C	NP_958786.1:p.Ala4422=
XM_005250976.2:c.13692A>C	XP_005251033.1:p.Ala4564=
XM_005250978.2:c.13293A>C	XP_005251035.1:p.Ala4431=
XM_005250979.3:c.13281A>C	XP_005251036.1:p.Ala4427=
XM_005250980.3:c.13281A>C	XP_005251037.1:p.Ala4427=
XM_005250981.2:c.13239A>C	XP_005251038.1:p.Ala4413=
XM_005250982.2:c.13215A>C	XP_005251039.1:p.Ala4405=
XM_005250983.2:c.13197A>C	XP_005251040.1:p.Ala4399=
XM_005250984.3:c.13185A>C	XP_005251041.1:p.Ala4395=
XM_006716588.2:c.13362A>C	XP_006716651.1:p.Ala4454=
XM_006716589.2:c.13212A>C	XP_006716652.1:p.Ala4404=
XM_006716590.2:c.13212A>C	XP_006716653.1:p.Ala4404=
XM_011517130.1:c.13281A>C	XP_011515432.1:p.Ala4427=
XM_011517131.1:c.13197A>C	XP_011515433.1:p.Ala4399=
XM_011517132.1:c.9912A>C	XP_011515434.1:p.Ala3304=
XM_005250976.4:c.13692A>C	XP_005251033.1:p.Ala4564=
XM_005250978.3:c.13293A>C	XP_005251035.1:p.Ala4431=
XM_005250979.4:c.13281A>C	XP_005251036.1:p.Ala4427=
XM_005250980.4:c.13281A>C	XP_005251037.1:p.Ala4427=
XM_005250981.3:c.13239A>C	XP_005251038.1:p.Ala4413=
XM_005250982.4:c.13215A>C	XP_005251039.1:p.Ala4405=
XM_005250984.5:c.13185A>C	XP_005251041.1:p.Ala4395=
XM_006716588.3:c.13362A>C	XP_006716651.1:p.Ala4454=
XM_006716590.3:c.13212A>C	XP_006716653.1:p.Ala4404=
XM_011517130.2:c.13281A>C	XP_011515432.1:p.Ala4427=
XM_011517131.2:c.13197A>C	XP_011515433.1:p.Ala4399=
XM_011517132.2:c.9912A>C	XP_011515434.1:p.Ala3304=
NM_000445.5:c.13347A>C	NP_000436.2:p.Ala4449=
NM_201378.4:c.13224A>C MANE Plus Clinical	NP_958780.1:p.Ala4408=
NM_201379.3:c.13200A>C	NP_958781.1:p.Ala4400=
NM_201380.4:c.13677A>C	NP_958782.1:p.Ala4559=
NM_201381.3:c.13170A>C	NP_958783.1:p.Ala4390=
NM_201382.4:c.13266A>C	NP_958784.1:p.Ala4422=
NM_201383.3:c.13278A>C	NP_958785.1:p.Ala4426=
NM_201384.3:c.13266A>C MANE Select	NP_958786.1:p.Ala4422=