Canonical Allele Identifier: CA16042688
Gene: INPP5E HGNC NCBI

Linked Data

ClinVar Variation Id: 372388
ClinVar RCV Id: RCV000412911
dbSNP Id: rs1057517749
MyVariant Identifiers: chr9:g.139326957T>C (hg19) chr9:g.136432505T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136432505T>C , CM000671.2:g.136432505T>C GRCh38
NC_000009.11:g.139326957T>C , CM000671.1:g.139326957T>C GRCh37
NC_000009.10:g.138446778T>C NCBI36
NG_016126.1:g.12300A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000371712.4:c.1361A>G MANE Select ENSP00000360777.3:p.Asp454Gly
ENST00000676019.1:c.1259A>G ENSP00000501984.1:p.Asp420Gly
ENST00000371712.3:c.1361A>G ENSP00000360777.3:p.Asp454Gly
NM_019892.4:c.1361A>G NP_063945.2:p.Asp454Gly
XM_005266094.2:c.1358A>G XP_005266151.1:p.Asp453Gly
XR_929828.1:n.1801A>G
NM_001318502.1:c.1358A>G NP_001305431.1:p.Asp453Gly
NM_019892.5:c.1361A>G NP_063945.2:p.Asp454Gly
XM_017014926.1:c.1361A>G XP_016870415.1:p.Asp454Gly
XR_929828.2:n.1803A>G
NM_019892.6:c.1361A>G MANE Select NP_063945.2:p.Asp454Gly
NM_001318502.2:c.1358A>G NP_001305431.1:p.Asp453Gly
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