Canonical Allele Identifier: CA372474655

Gene: PLEC

Linked Data

• dbSNP Id: rs1554669043
• gnomAD v2: 8-144990598-A-G
• gnomAD v4: 8-143916430-A-G
• MyVariant Identifiers: chr8:g.144990598A>G (hg19) ; chr8:g.143916430A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916430A>G , CM000670.2:g.143916430A>G	GRCh38
NC_000008.10:g.144990598A>G , CM000670.1:g.144990598A>G	GRCh37
NC_000008.9:g.145062586A>G	NCBI36
NG_012492.1:g.65316T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13523T>C	ENSP00000437303.2:p.Leu4508Pro
ENST00000685198.1:c.13442T>C	ENSP00000510528.1:p.Leu4481Pro
ENST00000687971.1:c.13109T>C	ENSP00000510788.1:p.Leu4370Pro
ENST00000693060.1:c.13322T>C	ENSP00000510329.1:p.Leu4441Pro
ENST00000345136.8:c.13391T>C MANE Select	ENSP00000344848.3:p.Leu4464Pro
ENST00000527303.2:c.10091T>C	ENSP00000433982.2:p.Leu3364Pro
ENST00000322810.8:c.13802T>C	ENSP00000323856.4:p.Leu4601Pro
ENST00000345136.7:c.13391T>C	ENSP00000344848.3:p.Leu4464Pro
ENST00000354589.7:c.13391T>C	ENSP00000346602.3:p.Leu4464Pro
ENST00000354958.6:c.13325T>C	ENSP00000347044.2:p.Leu4442Pro
ENST00000356346.7:c.13349T>C MANE Plus Clinical	ENSP00000348702.3:p.Leu4450Pro
ENST00000357649.6:c.13403T>C	ENSP00000350277.2:p.Leu4468Pro
ENST00000398774.6:c.13295T>C	ENSP00000381756.2:p.Leu4432Pro
ENST00000436759.6:c.13472T>C	ENSP00000388180.2:p.Leu4491Pro
ENST00000527096.5:c.13460T>C	ENSP00000434583.1:p.Leu4487Pro
NM_000445.4:c.13472T>C	NP_000436.2:p.Leu4491Pro
NM_201378.3:c.13349T>C	NP_958780.1:p.Leu4450Pro
NM_201379.2:c.13325T>C	NP_958781.1:p.Leu4442Pro
NM_201380.3:c.13802T>C	NP_958782.1:p.Leu4601Pro
NM_201381.2:c.13295T>C	NP_958783.1:p.Leu4432Pro
NM_201382.3:c.13391T>C	NP_958784.1:p.Leu4464Pro
NM_201383.2:c.13403T>C	NP_958785.1:p.Leu4468Pro
NM_201384.2:c.13391T>C	NP_958786.1:p.Leu4464Pro
XM_005250976.2:c.13817T>C	XP_005251033.1:p.Leu4606Pro
XM_005250978.2:c.13418T>C	XP_005251035.1:p.Leu4473Pro
XM_005250979.3:c.13406T>C	XP_005251036.1:p.Leu4469Pro
XM_005250980.3:c.13406T>C	XP_005251037.1:p.Leu4469Pro
XM_005250981.2:c.13364T>C	XP_005251038.1:p.Leu4455Pro
XM_005250982.2:c.13340T>C	XP_005251039.1:p.Leu4447Pro
XM_005250983.2:c.13322T>C	XP_005251040.1:p.Leu4441Pro
XM_005250984.3:c.13310T>C	XP_005251041.1:p.Leu4437Pro
XM_006716588.2:c.13487T>C	XP_006716651.1:p.Leu4496Pro
XM_006716589.2:c.13337T>C	XP_006716652.1:p.Leu4446Pro
XM_006716590.2:c.13337T>C	XP_006716653.1:p.Leu4446Pro
XM_011517130.1:c.13406T>C	XP_011515432.1:p.Leu4469Pro
XM_011517131.1:c.13322T>C	XP_011515433.1:p.Leu4441Pro
XM_011517132.1:c.10037T>C	XP_011515434.1:p.Leu3346Pro
XM_005250976.4:c.13817T>C	XP_005251033.1:p.Leu4606Pro
XM_005250978.3:c.13418T>C	XP_005251035.1:p.Leu4473Pro
XM_005250979.4:c.13406T>C	XP_005251036.1:p.Leu4469Pro
XM_005250980.4:c.13406T>C	XP_005251037.1:p.Leu4469Pro
XM_005250981.3:c.13364T>C	XP_005251038.1:p.Leu4455Pro
XM_005250982.4:c.13340T>C	XP_005251039.1:p.Leu4447Pro
XM_005250984.5:c.13310T>C	XP_005251041.1:p.Leu4437Pro
XM_006716588.3:c.13487T>C	XP_006716651.1:p.Leu4496Pro
XM_006716590.3:c.13337T>C	XP_006716653.1:p.Leu4446Pro
XM_011517130.2:c.13406T>C	XP_011515432.1:p.Leu4469Pro
XM_011517131.2:c.13322T>C	XP_011515433.1:p.Leu4441Pro
XM_011517132.2:c.10037T>C	XP_011515434.1:p.Leu3346Pro
NM_000445.5:c.13472T>C	NP_000436.2:p.Leu4491Pro
NM_201378.4:c.13349T>C MANE Plus Clinical	NP_958780.1:p.Leu4450Pro
NM_201379.3:c.13325T>C	NP_958781.1:p.Leu4442Pro
NM_201380.4:c.13802T>C	NP_958782.1:p.Leu4601Pro
NM_201381.3:c.13295T>C	NP_958783.1:p.Leu4432Pro
NM_201382.4:c.13391T>C	NP_958784.1:p.Leu4464Pro
NM_201383.3:c.13403T>C	NP_958785.1:p.Leu4468Pro
NM_201384.3:c.13391T>C MANE Select	NP_958786.1:p.Leu4464Pro