Canonical Allele Identifier: CA10654729

Gene: PDP1

Linked Data

• ClinVar Variation Id: 369617
• ClinVar RCV Id: RCV000367981 ; RCV001653778
• dbSNP Id: rs4469422
• gnomAD v2: 8-94929079-T-A
• gnomAD v3: 8-93916851-T-A
• gnomAD v4: 8-93916851-T-A
• MyVariant Identifiers: chr8:g.94929079T>A (hg19) ; chr8:g.93916851T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93916851T>A , CM000670.2:g.93916851T>A	GRCh38
NC_000008.10:g.94929079T>A , CM000670.1:g.94929079T>A	GRCh37
NC_000008.9:g.94998255T>A	NCBI36
NG_012233.1:g.4918T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000523021.1:n.389-4376T>A