Canonical Allele Identifier: CA224429178

Gene: INPPL1

Linked Data

• dbSNP Id: rs1026363063
• gnomAD v2: 11-71936164-G-A
• gnomAD v3: 11-72225120-G-A
• gnomAD v4: 11-72225120-G-A
• MyVariant Identifiers: chr11:g.71936164G>A (hg19) ; chr11:g.72225120G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72225120G>A , CM000673.2:g.72225120G>A	GRCh38
NC_000011.9:g.71936164G>A , CM000673.1:g.71936164G>A	GRCh37
NC_000011.8:g.71613812G>A	NCBI36
NG_023253.1:g.5283G>A
NG_023253.2:g.5283G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298229.7:c.136G>A MANE Select	ENSP00000298229.2:p.Val46Ile
ENST00000298229.6:c.136G>A	ENSP00000298229.2:p.Val46Ile
ENST00000541544.1:n.52G>A
NM_001567.3:c.136G>A	NP_001558.3:p.Val46Ile
XM_005273978.3:c.136G>A	XP_005274035.1:p.Val46Ile
XM_005273979.3:c.136G>A	XP_005274036.1:p.Val46Ile
XM_011544999.1:c.136G>A	XP_011543301.1:p.Val46Ile
XM_011545000.1:c.136G>A	XP_011543302.1:p.Val46Ile
XM_005273979.4:c.136G>A	XP_005274036.1:p.Val46Ile
XM_011544999.2:c.136G>A	XP_011543301.1:p.Val46Ile
XM_024448501.1:c.136G>A	XP_024304269.1:p.Val46Ile
XM_024448502.1:c.136G>A	XP_024304270.1:p.Val46Ile
XM_024448503.1:c.15G>A	XP_024304271.1:p.Trp5Ter
XM_024448504.1:c.136G>A	XP_024304272.1:p.Val46Ile
XM_024448505.1:c.136G>A	XP_024304273.1:p.Val46Ile
NM_001567.4:c.136G>A MANE Select	NP_001558.3:p.Val46Ile