Canonical Allele Identifier: CA376965313
Gene: IPMK HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.58216171T>G
GRCh37 chr10:g.59975932T>G
Revel Score:
ENST00000373935 (MANE Select) 0.154
ClinVar Allele:
2252701
ClinVar RCV:
RCV004118558
ClinVar Variation:
2265023
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.58216171T>G , CM000672.2:g.58216171T>G GRCh38
NC_000010.10:g.59975932T>G , CM000672.1:g.59975932T>G GRCh37
NC_000010.9:g.59645938T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000373935.4:c.520A>C MANE Select ENSP00000363046.3:p.Ile174Leu
ENST00000373935.3:c.520A>C ENSP00000363046.3:p.Ile174Leu
NM_152230.4:c.520A>C NP_689416.1:p.Ile174Leu
XM_011539565.1:c.529A>C XP_011537867.1:p.Ile177Leu
XM_011539565.3:c.529A>C XP_011537867.1:p.Ile177Leu
XM_017016013.2:c.256A>C XP_016871502.1:p.Ile86Leu
NM_152230.5:c.520A>C MANE Select NP_689416.1:p.Ile174Leu
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