Canonical Allele Identifier: CA154434

Gene: PLEC

Linked Data

• ClinVar Variation Id: 129932
• ClinVar RCV Id: RCV000117953 ; RCV000558023 ; RCV000725963
• dbSNP Id: rs201820569
• ExAC: 8:145049405 C / T
• gnomAD v2: 8-145049405-C-T
• gnomAD v3: 8-143975237-C-T
• gnomAD v4: 8-143975237-C-T
• MyVariant Identifiers: chr8:g.145049405C>T (hg19) ; chr8:g.143975237C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143975237C>T , CM000670.2:g.143975237C>T	GRCh38
NC_000008.10:g.145049405C>T , CM000670.1:g.145049405C>T	GRCh37
NC_000008.9:g.145121393C>T	NCBI36
NG_012492.1:g.6509G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.133G>A	ENSP00000437303.2:p.Gly45Ser
ENST00000527303.2:c.133G>A	ENSP00000433982.2:p.Gly45Ser
ENST00000436759.6:c.133G>A	ENSP00000388180.2:p.Gly45Ser
ENST00000527096.5:c.133G>A	ENSP00000434583.1:p.Gly45Ser
ENST00000528025.5:c.133G>A	ENSP00000437303.1:p.Gly45Ser
NM_000445.4:c.133G>A	NP_000436.2:p.Gly45Ser
XM_006716588.2:c.133G>A	XP_006716651.1:p.Gly45Ser
XM_006716588.3:c.133G>A	XP_006716651.1:p.Gly45Ser
NM_000445.5:c.133G>A	NP_000436.2:p.Gly45Ser