Canonical Allele Identifier: CA10512744
Gene: XPNPEP2 HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.129750474C>T
GRCh37 chrX:g.128884450C>T
Revel Score:
ENST00000371106 (MANE Select) 0.571
gnomAD v2:
X:128884450 C / T
gnomAD v3:
X:129750474 C / T
gnomAD v4:
chrX-129750474-C-T
Joint Max Group AF 0.00439561 (NFE)
Genomes Max Group AF 0.00355447 (NFE)
Exomes Max Group AF 0.00442435 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.129750474C>T , CM000685.2:g.129750474C>T GRCh38
NC_000023.10:g.128884450C>T , CM000685.1:g.128884450C>T GRCh37
NC_000023.9:g.128712131C>T NCBI36
NG_011479.1:g.16505C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371106.4:c.644C>T MANE Select ENSP00000360147.3:p.Thr215Ile
ENST00000371106.3:c.644C>T ENSP00000360147.3:p.Thr215Ile
NM_003399.5:c.644C>T NP_003390.4:p.Thr215Ile
NM_003399.6:c.644C>T MANE Select NP_003390.4:p.Thr215Ile
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