Canonical Allele Identifier: CA224376101

Gene: INPPL1

Linked Data

• ClinVar Variation Id: 1191201
• ClinVar RCV Id: RCV001552182
• dbSNP Id: rs77490552
• gnomAD v2: 11-71941696-C-G
• gnomAD v3: 11-72230652-C-G
• gnomAD v4: 11-72230652-C-G
• MyVariant Identifiers: chr11:g.71941696C>G (hg19) ; chr11:g.72230652C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72230652C>G , CM000673.2:g.72230652C>G	GRCh38
NC_000011.9:g.71941696C>G , CM000673.1:g.71941696C>G	GRCh37
NC_000011.8:g.71619344C>G	NCBI36
NG_023253.1:g.10815C>G
NG_023253.2:g.10815C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298229.7:c.1198-144C>G MANE Select	ENSP00000298229.2:n.1198-144C>G
ENST00000298229.6:c.1198-144C>G	ENSP00000298229.2:n.1198-144C>G
ENST00000538751.5:c.472-144C>G	ENSP00000444619.1:n.472-144C>G
ENST00000541756.5:c.1000-144C>G	ENSP00000446360.2:n.1000-144C>G
NM_001567.3:c.1198-144C>G	NP_001558.3:n.1198-144C>G
XM_005273978.3:c.1264-144C>G	XP_005274035.1:n.1264-144C>G
XM_005273979.3:c.1264-144C>G	XP_005274036.1:n.1264-144C>G
XM_011544999.1:c.1198-144C>G	XP_011543301.1:n.1198-144C>G
XM_011545000.1:c.1264-144C>G	XP_011543302.1:n.1264-144C>G
XM_005273979.4:c.1264-144C>G	XP_005274036.1:n.1264-144C>G
XM_011544999.2:c.1198-144C>G	XP_011543301.1:n.1198-144C>G
XM_024448501.1:c.1264-144C>G	XP_024304269.1:n.1264-144C>G
XM_024448502.1:c.1264-144C>G	XP_024304270.1:n.1264-144C>G
XM_024448503.1:c.1234-144C>G	XP_024304271.1:n.1234-144C>G
XM_024448504.1:c.1198-144C>G	XP_024304272.1:n.1198-144C>G
XM_024448505.1:c.1264-144C>G	XP_024304273.1:n.1264-144C>G
NM_001567.4:c.1198-144C>G MANE Select	NP_001558.3:n.1198-144C>G