Canonical Allele Identifier: CA277125724
Gene: PPL HGNC NCBI

Linked Data

dbSNP Id: rs561390783
gnomAD v2: 16-5001437-A-G
gnomAD v3: 16-4951436-A-G
gnomAD v4: 16-4951436-A-G
MyVariant Identifiers: chr16:g.5001437A>G (hg19) chr16:g.4951436A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.4951436A>G , CM000678.2:g.4951436A>G GRCh38
NC_000016.9:g.5001437A>G , CM000678.1:g.5001437A>G GRCh37
NC_000016.8:g.4941438A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000592772.1:c.-92+9128T>C ENSP00000467699.1:n.-92+9128T>C
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