Canonical Allele Identifier: CA235272

Gene: XPNPEP3

Linked Data

• ClinVar Variation Id: 167851
• ClinVar RCV Id: RCV000154150 ; RCV001083063
• dbSNP Id: rs143719656
• ExAC: 22:41282309 A / G
• gnomAD v2: 22-41282309-A-G
• gnomAD v3: 22-40886305-A-G
• gnomAD v4: 22-40886305-A-G
• MyVariant Identifiers: chr22:g.41282309A>G (hg19) ; chr22:g.40886305A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.40886305A>G , CM000684.2:g.40886305A>G	GRCh38
NC_000022.10:g.41282309A>G , CM000684.1:g.41282309A>G	GRCh37
NC_000022.9:g.39612255A>G	NCBI36
NG_028221.1:g.34225A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357137.9:c.590-8A>G MANE Select	ENSP00000349658.4:n.590-8A>G
ENST00000357137.8:c.590-8A>G	ENSP00000349658.4:n.590-8A>G
ENST00000428799.1:c.*472-8A>G	ENSP00000394283.1:n.*472-8A>G
NM_022098.3:c.590-8A>G	NP_071381.1:n.590-8A>G
NM_022098.4:c.590-8A>G MANE Select	NP_071381.1:n.590-8A>G