Canonical Allele Identifier: CA721246513

Gene: PPL

Linked Data

• dbSNP Id: rs1164751957
• gnomAD v3: 16-4951292-C-G
• gnomAD v4: 16-4951292-C-G
• MyVariant Identifiers: chr16:g.5001293C>G (hg19) ; chr16:g.4951292C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4951292C>G , CM000678.2:g.4951292C>G	GRCh38
NC_000016.9:g.5001293C>G , CM000678.1:g.5001293C>G	GRCh37
NC_000016.8:g.4941294C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000592772.1:c.-92+9272G>C	ENSP00000467699.1:n.-92+9272G>C