Canonical Allele Identifier: CA6169829

Gene: INPPL1

Linked Data

• ClinVar Variation Id: 782869
• ClinVar RCV Id: RCV000964322 ; RCV002503019
• dbSNP Id: rs17847215
• ExAC: 11:71941033 G / C
• gnomAD v2: 11-71941033-G-C
• gnomAD v3: 11-72229989-G-C
• gnomAD v4: 11-72229989-G-C
• MyVariant Identifiers: chr11:g.71941033G>C (hg19) ; chr11:g.72229989G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72229989G>C , CM000673.2:g.72229989G>C	GRCh38
NC_000011.9:g.71941033G>C , CM000673.1:g.71941033G>C	GRCh37
NC_000011.8:g.71618681G>C	NCBI36
NG_023253.1:g.10152G>C
NG_023253.2:g.10152G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298229.7:c.909G>C MANE Select	ENSP00000298229.2:p.Lys303Asn
ENST00000298229.6:c.909G>C	ENSP00000298229.2:p.Lys303Asn
ENST00000538751.5:c.183G>C	ENSP00000444619.1:p.Lys61Asn
ENST00000540329.5:c.93G>C	ENSP00000440018.1:p.Lys31Asn
ENST00000541756.5:c.711G>C	ENSP00000446360.2:p.Lys237Asn
NM_001567.3:c.909G>C	NP_001558.3:p.Lys303Asn
XM_005273978.3:c.975G>C	XP_005274035.1:p.Lys325Asn
XM_005273979.3:c.975G>C	XP_005274036.1:p.Lys325Asn
XM_011544999.1:c.909G>C	XP_011543301.1:p.Lys303Asn
XM_011545000.1:c.975G>C	XP_011543302.1:p.Lys325Asn
XM_005273979.4:c.975G>C	XP_005274036.1:p.Lys325Asn
XM_011544999.2:c.909G>C	XP_011543301.1:p.Lys303Asn
XM_024448501.1:c.975G>C	XP_024304269.1:p.Lys325Asn
XM_024448502.1:c.975G>C	XP_024304270.1:p.Lys325Asn
XM_024448503.1:c.945G>C	XP_024304271.1:p.Lys315Asn
XM_024448504.1:c.909G>C	XP_024304272.1:p.Lys303Asn
XM_024448505.1:c.975G>C	XP_024304273.1:p.Lys325Asn
NM_001567.4:c.909G>C MANE Select	NP_001558.3:p.Lys303Asn