Canonical Allele Identifier: CA815669
Gene: IPO13 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.43966945C>T
GRCh37 chr1:g.44432617C>T
Revel Score:
ENST00000372343 (MANE Select) 0.271
ENST00000372339 0.271
gnomAD v2:
1:44432617 C / T
gnomAD v3:
1:43966945 C / T
gnomAD v4:
chr1-43966945-C-T
Joint Max Group AF 0.00002907 (NFE)
Genomes Max Group AF 0.00003253 (AFR)
Exomes Max Group AF 0.00002743 (NFE)
ClinVar RCV:
RCV004087923
ClinVar Variation:
2221171
dbSNP:
141629431
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.43966945C>T , CM000663.2:g.43966945C>T GRCh38
NC_000001.10:g.44432617C>T , CM000663.1:g.44432617C>T GRCh37
NC_000001.9:g.44205204C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000372343.8:c.2539C>T MANE Select ENSP00000361418.3:p.Arg847Trp
ENST00000372339.3:c.193C>T ENSP00000361414.3:p.Arg65Trp
ENST00000372343.7:c.2539C>T ENSP00000361418.3:p.Arg847Trp
NM_014652.3:c.2539C>T NP_055467.3:p.Arg847Trp
XM_011542461.1:c.1636C>T XP_011540763.1:p.Arg546Trp
XM_024451069.1:c.1636C>T XP_024306837.1:p.Arg546Trp
XM_024451070.1:c.1636C>T XP_024306838.1:p.Arg546Trp
NM_014652.4:c.2539C>T MANE Select NP_055467.3:p.Arg847Trp
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