Canonical Allele Identifier: CA6169822

Gene: INPPL1

Linked Data

• dbSNP Id: rs201624140
• ExAC: 11:71940993 G / A
• gnomAD v2: 11-71940993-G-A
• gnomAD v3: 11-72229949-G-A
• gnomAD v4: 11-72229949-G-A
• MyVariant Identifiers: chr11:g.71940993G>A (hg19) ; chr11:g.72229949G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72229949G>A , CM000673.2:g.72229949G>A	GRCh38
NC_000011.9:g.71940993G>A , CM000673.1:g.71940993G>A	GRCh37
NC_000011.8:g.71618641G>A	NCBI36
NG_023253.1:g.10112G>A
NG_023253.2:g.10112G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298229.7:c.869G>A MANE Select	ENSP00000298229.2:p.Ser290Asn
ENST00000298229.6:c.869G>A	ENSP00000298229.2:p.Ser290Asn
ENST00000538751.5:c.143G>A	ENSP00000444619.1:p.Ser48Asn
ENST00000540329.5:c.53G>A	ENSP00000440018.1:p.Ser18Asn
ENST00000541756.5:c.671G>A	ENSP00000446360.2:p.Ser224Asn
NM_001567.3:c.869G>A	NP_001558.3:p.Ser290Asn
XM_005273978.3:c.935G>A	XP_005274035.1:p.Ser312Asn
XM_005273979.3:c.935G>A	XP_005274036.1:p.Ser312Asn
XM_011544999.1:c.869G>A	XP_011543301.1:p.Ser290Asn
XM_011545000.1:c.935G>A	XP_011543302.1:p.Ser312Asn
XM_005273979.4:c.935G>A	XP_005274036.1:p.Ser312Asn
XM_011544999.2:c.869G>A	XP_011543301.1:p.Ser290Asn
XM_024448501.1:c.935G>A	XP_024304269.1:p.Ser312Asn
XM_024448502.1:c.935G>A	XP_024304270.1:p.Ser312Asn
XM_024448503.1:c.905G>A	XP_024304271.1:p.Ser302Asn
XM_024448504.1:c.869G>A	XP_024304272.1:p.Ser290Asn
XM_024448505.1:c.935G>A	XP_024304273.1:p.Ser312Asn
NM_001567.4:c.869G>A MANE Select	NP_001558.3:p.Ser290Asn