Canonical Allele Identifier: CA277125719

Gene: PPL

Linked Data

• dbSNP Id: rs1046443294
• gnomAD v2: 16-5001423-T-C
• gnomAD v3: 16-4951422-T-C
• gnomAD v4: 16-4951422-T-C
• MyVariant Identifiers: chr16:g.5001423T>C (hg19) ; chr16:g.4951422T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4951422T>C , CM000678.2:g.4951422T>C	GRCh38
NC_000016.9:g.5001423T>C , CM000678.1:g.5001423T>C	GRCh37
NC_000016.8:g.4941424T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000592772.1:c.-92+9142A>G	ENSP00000467699.1:n.-92+9142A>G