Canonical Allele Identifier: CA620520655

Gene: PPL

Linked Data

• dbSNP Id: rs938965196
• gnomAD v2: 16-5001430-C-A
• gnomAD v3: 16-4951429-C-A
• gnomAD v4: 16-4951429-C-A
• MyVariant Identifiers: chr16:g.5001430C>A (hg19) ; chr16:g.4951429C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4951429C>A , CM000678.2:g.4951429C>A	GRCh38
NC_000016.9:g.5001430C>A , CM000678.1:g.5001430C>A	GRCh37
NC_000016.8:g.4941431C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000592772.1:c.-92+9135G>T	ENSP00000467699.1:n.-92+9135G>T