Canonical Allele Identifier: CA10251702

Gene: XPNPEP3

Linked Data

• ClinVar Variation Id: 341668
• ClinVar RCV Id: RCV000279640 ; RCV000863147
• dbSNP Id: rs137859412
• ExAC: 22:41282445 A / T
• gnomAD v2: 22-41282445-A-T
• gnomAD v3: 22-40886441-A-T
• gnomAD v4: 22-40886441-A-T
• MyVariant Identifiers: chr22:g.41282445A>T (hg19) ; chr22:g.40886441A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.40886441A>T , CM000684.2:g.40886441A>T	GRCh38
NC_000022.10:g.41282445A>T , CM000684.1:g.41282445A>T	GRCh37
NC_000022.9:g.39612391A>T	NCBI36
NG_028221.1:g.34361A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357137.9:c.718A>T MANE Select	ENSP00000349658.4:p.Ile240Leu
ENST00000357137.8:c.718A>T	ENSP00000349658.4:p.Ile240Leu
ENST00000428799.1:c.*600A>T	ENSP00000394283.1:n.*600A>T
NM_022098.3:c.718A>T	NP_071381.1:p.Ile240Leu
NM_022098.4:c.718A>T MANE Select	NP_071381.1:p.Ile240Leu