Canonical Allele Identifier: CA277125547

Gene: PPL

Linked Data

• dbSNP Id: rs149683566
• gnomAD v2: 16-5001201-T-G
• gnomAD v3: 16-4951200-T-G
• gnomAD v4: 16-4951200-T-G
• MyVariant Identifiers: chr16:g.5001201T>G (hg19) ; chr16:g.4951200T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4951200T>G , CM000678.2:g.4951200T>G	GRCh38
NC_000016.9:g.5001201T>G , CM000678.1:g.5001201T>G	GRCh37
NC_000016.8:g.4941202T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592772.1:c.-92+9364A>C	ENSP00000467699.1:n.-92+9364A>C