Canonical Allele Identifier: CA2573147664

Gene: INPPL1

Linked Data

• ClinVar Variation Id: 1621398
• ClinVar RCV Id: RCV002094134
• dbSNP Id: rs2135426566
• gnomAD v4: 11-72230101-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72230101C>T , CM000673.2:g.72230101C>T	GRCh38
NC_000011.9:g.71941145C>T , CM000673.1:g.71941145C>T	GRCh37
NC_000011.8:g.71618793C>T	NCBI36
NG_023253.1:g.10264C>T
NG_023253.2:g.10264C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298229.7:c.940-20C>T MANE Select	ENSP00000298229.2:n.940-20C>T
ENST00000298229.6:c.940-20C>T	ENSP00000298229.2:n.940-20C>T
ENST00000538751.5:c.214-20C>T	ENSP00000444619.1:n.214-20C>T
ENST00000540329.5:c.124-20C>T	ENSP00000440018.1:n.124-20C>T
ENST00000541756.5:c.742-20C>T	ENSP00000446360.2:n.742-20C>T
NM_001567.3:c.940-20C>T	NP_001558.3:n.940-20C>T
XM_005273978.3:c.1006-20C>T	XP_005274035.1:n.1006-20C>T
XM_005273979.3:c.1006-20C>T	XP_005274036.1:n.1006-20C>T
XM_011544999.1:c.940-20C>T	XP_011543301.1:n.940-20C>T
XM_011545000.1:c.1006-20C>T	XP_011543302.1:n.1006-20C>T
XM_005273979.4:c.1006-20C>T	XP_005274036.1:n.1006-20C>T
XM_011544999.2:c.940-20C>T	XP_011543301.1:n.940-20C>T
XM_024448501.1:c.1006-20C>T	XP_024304269.1:n.1006-20C>T
XM_024448502.1:c.1006-20C>T	XP_024304270.1:n.1006-20C>T
XM_024448503.1:c.976-20C>T	XP_024304271.1:n.976-20C>T
XM_024448504.1:c.940-20C>T	XP_024304272.1:n.940-20C>T
XM_024448505.1:c.1006-20C>T	XP_024304273.1:n.1006-20C>T
NM_001567.4:c.940-20C>T MANE Select	NP_001558.3:n.940-20C>T