Canonical Allele Identifier: CA5336675
Gene: INPP5E HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.136430349G>C
GRCh37 chr9:g.139324801G>C
Revel Score:
ENST00000371712 (MANE Select) 0.356
gnomAD v2:
9:139324801 G / C
gnomAD v3:
9:136430349 G / C
gnomAD v4:
chr9-136430349-G-C
Joint Max Group AF 0.00067559 (NFE)
Genomes Max Group AF 0.00108813 (NFE)
Exomes Max Group AF 0.00063854 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136430349G>C , CM000671.2:g.136430349G>C GRCh38
NC_000009.11:g.139324801G>C , CM000671.1:g.139324801G>C GRCh37
NC_000009.10:g.138444622G>C NCBI36
NG_016126.1:g.14456C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371712.4:c.1730C>G MANE Select ENSP00000360777.3:p.Pro577Arg
ENST00000674693.1:n.247C>G
ENST00000676019.1:c.1628C>G ENSP00000501984.1:p.Pro543Arg
ENST00000371712.3:c.1730C>G ENSP00000360777.3:p.Pro577Arg
NM_019892.4:c.1730C>G NP_063945.2:p.Pro577Arg
XM_005266094.2:c.1727C>G XP_005266151.1:p.Pro576Arg
NM_001318502.1:c.1727C>G NP_001305431.1:p.Pro576Arg
NM_019892.5:c.1730C>G NP_063945.2:p.Pro577Arg
XM_017014926.1:c.1730C>G XP_016870415.1:p.Pro577Arg
XR_929828.2:n.2335C>G
NM_019892.6:c.1730C>G MANE Select NP_063945.2:p.Pro577Arg
NM_001318502.2:c.1727C>G NP_001305431.1:p.Pro576Arg
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