Canonical Allele Identifier: CA277125593

Gene: PPL

Linked Data

• dbSNP Id: rs557022291
• gnomAD v2: 16-5001305-T-C
• gnomAD v3: 16-4951304-T-C
• gnomAD v4: 16-4951304-T-C
• MyVariant Identifiers: chr16:g.5001305T>C (hg19) ; chr16:g.4951304T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4951304T>C , CM000678.2:g.4951304T>C	GRCh38
NC_000016.9:g.5001305T>C , CM000678.1:g.5001305T>C	GRCh37
NC_000016.8:g.4941306T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000592772.1:c.-92+9260A>G	ENSP00000467699.1:n.-92+9260A>G