Canonical Allele Identifier: CA620520607

Gene: PPL

Linked Data

• dbSNP Id: rs1349136211
• gnomAD v2: 16-5001292-C-T
• gnomAD v3: 16-4951291-C-T
• gnomAD v4: 16-4951291-C-T
• MyVariant Identifiers: chr16:g.5001292C>T (hg19) ; chr16:g.4951291C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4951291C>T , CM000678.2:g.4951291C>T	GRCh38
NC_000016.9:g.5001292C>T , CM000678.1:g.5001292C>T	GRCh37
NC_000016.8:g.4941293C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000592772.1:c.-92+9273G>A	ENSP00000467699.1:n.-92+9273G>A