Canonical Allele Identifier: CA130322
Gene: INPPL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 39473
ClinVar RCV Id: RCV000032669
dbSNP Id: rs397514508
gnomAD v4: 11-72233099-C-T
MyVariant Identifiers: chr11:g.71944143C>T (hg19) chr11:g.72233099C>T (hg38)
PubMed: PMID:23273567
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72233099C>T , CM000673.2:g.72233099C>T GRCh38
NC_000011.9:g.71944143C>T , CM000673.1:g.71944143C>T GRCh37
NC_000011.8:g.71621791C>T NCBI36
NG_023253.1:g.13262C>T
NG_023253.2:g.13262C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000298229.7:c.1976C>T MANE Select ENSP00000298229.2:p.Pro659Leu
ENST00000298229.6:c.1976C>T ENSP00000298229.2:p.Pro659Leu
ENST00000538751.5:c.1250C>T ENSP00000444619.1:p.Pro417Leu
ENST00000541303.5:n.582C>T
ENST00000541756.5:c.1778C>T ENSP00000446360.2:p.Pro593Leu
ENST00000545355.5:n.129C>T
NM_001567.3:c.1976C>T NP_001558.3:p.Pro659Leu
XM_005273978.3:c.2042C>T XP_005274035.1:p.Pro681Leu
XM_005273979.3:c.2042C>T XP_005274036.1:p.Pro681Leu
XM_011544999.1:c.1976C>T XP_011543301.1:p.Pro659Leu
XM_011545000.1:c.2042C>T XP_011543302.1:p.Pro681Leu
XM_005273979.4:c.2042C>T XP_005274036.1:p.Pro681Leu
XM_011544999.2:c.1976C>T XP_011543301.1:p.Pro659Leu
XM_024448501.1:c.2042C>T XP_024304269.1:p.Pro681Leu
XM_024448502.1:c.2042C>T XP_024304270.1:p.Pro681Leu
XM_024448503.1:c.2012C>T XP_024304271.1:p.Pro671Leu
XM_024448504.1:c.1976C>T XP_024304272.1:p.Pro659Leu
XM_024448505.1:c.2042C>T XP_024304273.1:p.Pro681Leu
NM_001567.4:c.1976C>T MANE Select NP_001558.3:p.Pro659Leu
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