Canonical Allele Identifier: CA243174

Gene: PLEC

Linked Data

• ClinVar Variation Id: 196274
• ClinVar RCV Id: RCV000177068 ; RCV001088787 ; RCV001289141
• dbSNP Id: rs181850748
• ExAC: 8:145012789 C / T
• gnomAD v2: 8-145012789-C-T
• gnomAD v3: 8-143938621-C-T
• gnomAD v4: 8-143938621-C-T
• MyVariant Identifiers: chr8:g.145012789C>T (hg19) ; chr8:g.143938621C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143938621C>T , CM000670.2:g.143938621C>T	GRCh38
NC_000008.10:g.145012789C>T , CM000670.1:g.145012789C>T	GRCh37
NC_000008.9:g.145084777C>T	NCBI36
NG_012492.1:g.43125G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.255+10G>A	ENSP00000437303.2:n.255+10G>A
ENST00000685198.1:c.225+10G>A	ENSP00000510528.1:n.225+10G>A
ENST00000687971.1:c.-109+10G>A	ENSP00000510788.1:n.-109+10G>A
ENST00000693060.1:c.105+10G>A	ENSP00000510329.1:n.105+10G>A
ENST00000345136.8:c.174+10G>A MANE Select	ENSP00000344848.3:n.174+10G>A
ENST00000527303.2:c.255+10G>A	ENSP00000433982.2:n.255+10G>A
ENST00000322810.8:c.585+10G>A	ENSP00000323856.4:n.585+10G>A
ENST00000345136.7:c.174+10G>A	ENSP00000344848.3:n.174+10G>A
ENST00000354589.7:c.174+10G>A	ENSP00000346602.3:n.174+10G>A
ENST00000354958.6:c.108+10G>A	ENSP00000347044.2:n.108+10G>A
ENST00000356346.7:c.132+10G>A MANE Plus Clinical	ENSP00000348702.3:n.132+10G>A
ENST00000357649.6:c.186+10G>A	ENSP00000350277.2:n.186+10G>A
ENST00000398774.6:c.78+10G>A	ENSP00000381756.2:n.78+10G>A
ENST00000436759.6:c.255+10G>A	ENSP00000388180.2:n.255+10G>A
ENST00000526416.5:c.105+10G>A	ENSP00000433557.1:n.105+10G>A
ENST00000527096.5:c.255+10G>A	ENSP00000434583.1:n.255+10G>A
ENST00000527816.5:c.-109+10G>A	ENSP00000434490.1:n.-109+10G>A
ENST00000528025.5:c.255+10G>A	ENSP00000437303.1:n.255+10G>A
ENST00000528131.1:c.225+10G>A	ENSP00000436702.1:n.225+10G>A
ENST00000532346.1:n.105+10G>A
NM_000445.4:c.255+10G>A	NP_000436.2:n.255+10G>A
NM_201378.3:c.132+10G>A	NP_958780.1:n.132+10G>A
NM_201379.2:c.108+10G>A	NP_958781.1:n.108+10G>A
NM_201380.3:c.585+10G>A	NP_958782.1:n.585+10G>A
NM_201381.2:c.78+10G>A	NP_958783.1:n.78+10G>A
NM_201382.3:c.174+10G>A	NP_958784.1:n.174+10G>A
NM_201383.2:c.186+10G>A	NP_958785.1:n.186+10G>A
NM_201384.2:c.174+10G>A	NP_958786.1:n.174+10G>A
XM_005250976.2:c.585+10G>A	XP_005251033.1:n.585+10G>A
XM_005250978.2:c.186+10G>A	XP_005251035.1:n.186+10G>A
XM_005250979.3:c.174+10G>A	XP_005251036.1:n.174+10G>A
XM_005250980.3:c.174+10G>A	XP_005251037.1:n.174+10G>A
XM_005250981.2:c.132+10G>A	XP_005251038.1:n.132+10G>A
XM_005250982.2:c.108+10G>A	XP_005251039.1:n.108+10G>A
XM_005250983.2:c.105+10G>A	XP_005251040.1:n.105+10G>A
XM_005250984.3:c.78+10G>A	XP_005251041.1:n.78+10G>A
XM_006716588.2:c.255+10G>A	XP_006716651.1:n.255+10G>A
XM_006716589.2:c.105+10G>A	XP_006716652.1:n.105+10G>A
XM_006716590.2:c.105+10G>A	XP_006716653.1:n.105+10G>A
XM_011517130.1:c.186+10G>A	XP_011515432.1:n.186+10G>A
XM_011517131.1:c.105+10G>A	XP_011515433.1:n.105+10G>A
XM_011517132.1:c.186+10G>A	XP_011515434.1:n.186+10G>A
XM_005250976.4:c.585+10G>A	XP_005251033.1:n.585+10G>A
XM_005250978.3:c.186+10G>A	XP_005251035.1:n.186+10G>A
XM_005250979.4:c.174+10G>A	XP_005251036.1:n.174+10G>A
XM_005250980.4:c.174+10G>A	XP_005251037.1:n.174+10G>A
XM_005250981.3:c.132+10G>A	XP_005251038.1:n.132+10G>A
XM_005250982.4:c.108+10G>A	XP_005251039.1:n.108+10G>A
XM_005250984.5:c.78+10G>A	XP_005251041.1:n.78+10G>A
XM_006716588.3:c.255+10G>A	XP_006716651.1:n.255+10G>A
XM_006716590.3:c.105+10G>A	XP_006716653.1:n.105+10G>A
XM_011517130.2:c.186+10G>A	XP_011515432.1:n.186+10G>A
XM_011517131.2:c.105+10G>A	XP_011515433.1:n.105+10G>A
XM_011517132.2:c.186+10G>A	XP_011515434.1:n.186+10G>A
NM_000445.5:c.255+10G>A	NP_000436.2:n.255+10G>A
NM_201378.4:c.132+10G>A MANE Plus Clinical	NP_958780.1:n.132+10G>A
NM_201379.3:c.108+10G>A	NP_958781.1:n.108+10G>A
NM_201380.4:c.585+10G>A	NP_958782.1:n.585+10G>A
NM_201381.3:c.78+10G>A	NP_958783.1:n.78+10G>A
NM_201382.4:c.174+10G>A	NP_958784.1:n.174+10G>A
NM_201383.3:c.186+10G>A	NP_958785.1:n.186+10G>A
NM_201384.3:c.174+10G>A MANE Select	NP_958786.1:n.174+10G>A