Canonical Allele Identifier: CA10251957

Gene: XPNPEP3

Linked Data

• ClinVar Variation Id: 538749
• ClinVar RCV Id: RCV000677015 ; RCV001082671
• dbSNP Id: rs146023695
• ExAC: 22:41322392 C / G
• gnomAD v2: 22-41322392-C-G
• gnomAD v3: 22-40926388-C-G
• gnomAD v4: 22-40926388-C-G
• MyVariant Identifiers: chr22:g.41322392C>G (hg19) ; chr22:g.40926388C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.40926388C>G , CM000684.2:g.40926388C>G	GRCh38
NC_000022.10:g.41322392C>G , CM000684.1:g.41322392C>G	GRCh37
NC_000022.9:g.39652338C>G	NCBI36
NG_028221.1:g.74308C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357137.9:c.1477C>G MANE Select	ENSP00000349658.4:p.Pro493Ala
ENST00000357137.8:c.1477C>G	ENSP00000349658.4:p.Pro493Ala
ENST00000428799.1:c.*1359C>G	ENSP00000394283.1:n.*1359C>G
NM_022098.3:c.1477C>G	NP_071381.1:p.Pro493Ala
NM_022098.4:c.1477C>G MANE Select	NP_071381.1:p.Pro493Ala