Canonical Allele Identifier: CA372492150

Gene: PLEC

Linked Data

• ClinVar Variation Id: 514624
• ClinVar RCV Id: RCV000604252 ; RCV001343265
• dbSNP Id: rs1554745695
• gnomAD v4: 8-143975320-T-C
• MyVariant Identifiers: chr8:g.145049488T>C (hg19) ; chr8:g.143975320T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143975320T>C , CM000670.2:g.143975320T>C	GRCh38
NC_000008.10:g.145049488T>C , CM000670.1:g.145049488T>C	GRCh37
NC_000008.9:g.145121476T>C	NCBI36
NG_012492.1:g.6426A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.50A>G	ENSP00000437303.2:p.Asn17Ser
ENST00000527303.2:c.50A>G	ENSP00000433982.2:p.Asn17Ser
ENST00000436759.6:c.50A>G	ENSP00000388180.2:p.Asn17Ser
ENST00000527096.5:c.50A>G	ENSP00000434583.1:p.Asn17Ser
ENST00000528025.5:c.50A>G	ENSP00000437303.1:p.Asn17Ser
NM_000445.4:c.50A>G	NP_000436.2:p.Asn17Ser
XM_006716588.2:c.50A>G	XP_006716651.1:p.Asn17Ser
XM_006716588.3:c.50A>G	XP_006716651.1:p.Asn17Ser
NM_000445.5:c.50A>G	NP_000436.2:p.Asn17Ser