Canonical Allele Identifier: CA151255
Gene: NPPA HGNC NCBI
NPPA-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 126846
dbSNP Id: rs202102042

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11847114C>T , CM000663.2:g.11847114C>T GRCh38
NC_000001.10:g.11907171C>T , CM000663.1:g.11907171C>T GRCh37
NC_000001.9:g.11829758C>T NCBI36
NG_012926.1:g.5670G>A , LRG_751:g.5670G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000400892.3:c.*1962-463C>T ENSP00000496938.1:p.=
ENST00000446542.5:n.782-320C>T
ENST00000376476.1:c.299G>A ENSP00000365659.1:p.Arg100Gln
ENST00000376480.7:c.449G>A (NPPA) MANE Select ENSP00000365663.3:p.Arg150Gln
ENST00000610706.1:c.449G>A ENSP00000483195.1:p.Arg150Gln
NM_006172.3:c.449G>A , LRG_751t1:c.449G>A (NPPA) NP_006163.1:p.Arg150Gln
NR_037806.1:n.1480-320C>T (NPPA-AS1)
NM_006172.4:c.449G>A (NPPA) MANE Select NP_006163.1:p.Arg150Gln