Canonical Allele Identifier: CA130327
Gene: INPPL1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.72230799C>T
GRCh37 chr11:g.71941843C>T
Revel Score:
ENST00000298229 (MANE Select) 0.798
ENST00000541756 0.798
ENST00000538751 0.798
gnomAD v4:
chr11-72230799-C-T
Joint Max Group AF 0.00000359 (NFE)
Exomes Max Group AF 0.00000381 (NFE)
ClinVar RCV:
RCV000032675
ClinVar Variation:
39479
dbSNP:
397514511
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72230799C>T , CM000673.2:g.72230799C>T GRCh38
NC_000011.9:g.71941843C>T , CM000673.1:g.71941843C>T GRCh37
NC_000011.8:g.71619491C>T NCBI36
NG_023253.1:g.10962C>T
NG_023253.2:g.10962C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000298229.7:c.1201C>T MANE Select ENSP00000298229.2:p.Arg401Trp
ENST00000298229.6:c.1201C>T ENSP00000298229.2:p.Arg401Trp
ENST00000538339.1:n.82C>T
ENST00000538751.5:c.475C>T ENSP00000444619.1:p.Arg159Trp
ENST00000541756.5:c.1003C>T ENSP00000446360.2:p.Arg335Trp
NM_001567.3:c.1201C>T NP_001558.3:p.Arg401Trp
XM_005273978.3:c.1267C>T XP_005274035.1:p.Arg423Trp
XM_005273979.3:c.1267C>T XP_005274036.1:p.Arg423Trp
XM_011544999.1:c.1201C>T XP_011543301.1:p.Arg401Trp
XM_011545000.1:c.1267C>T XP_011543302.1:p.Arg423Trp
XM_005273979.4:c.1267C>T XP_005274036.1:p.Arg423Trp
XM_011544999.2:c.1201C>T XP_011543301.1:p.Arg401Trp
XM_024448501.1:c.1267C>T XP_024304269.1:p.Arg423Trp
XM_024448502.1:c.1267C>T XP_024304270.1:p.Arg423Trp
XM_024448503.1:c.1237C>T XP_024304271.1:p.Arg413Trp
XM_024448504.1:c.1201C>T XP_024304272.1:p.Arg401Trp
XM_024448505.1:c.1267C>T XP_024304273.1:p.Arg423Trp
NM_001567.4:c.1201C>T MANE Select NP_001558.3:p.Arg401Trp
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