Canonical Allele Identifier: CA381723453

Gene: INPPL1

Linked Data

• dbSNP Id: rs1200716611
• gnomAD v2: 11-71941061-G-C
• gnomAD v4: 11-72230017-G-C
• MyVariant Identifiers: chr11:g.71941061G>C (hg19) ; chr11:g.72230017G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72230017G>C , CM000673.2:g.72230017G>C	GRCh38
NC_000011.9:g.71941061G>C , CM000673.1:g.71941061G>C	GRCh37
NC_000011.8:g.71618709G>C	NCBI36
NG_023253.1:g.10180G>C
NG_023253.2:g.10180G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298229.7:c.937G>C MANE Select	ENSP00000298229.2:p.Glu313Gln
ENST00000298229.6:c.937G>C	ENSP00000298229.2:p.Glu313Gln
ENST00000538751.5:c.211G>C	ENSP00000444619.1:p.Glu71Gln
ENST00000540329.5:c.121G>C	ENSP00000440018.1:p.Glu41Gln
ENST00000541756.5:c.739G>C	ENSP00000446360.2:p.Glu247Gln
NM_001567.3:c.937G>C	NP_001558.3:p.Glu313Gln
XM_005273978.3:c.1003G>C	XP_005274035.1:p.Glu335Gln
XM_005273979.3:c.1003G>C	XP_005274036.1:p.Glu335Gln
XM_011544999.1:c.937G>C	XP_011543301.1:p.Glu313Gln
XM_011545000.1:c.1003G>C	XP_011543302.1:p.Glu335Gln
XM_005273979.4:c.1003G>C	XP_005274036.1:p.Glu335Gln
XM_011544999.2:c.937G>C	XP_011543301.1:p.Glu313Gln
XM_024448501.1:c.1003G>C	XP_024304269.1:p.Glu335Gln
XM_024448502.1:c.1003G>C	XP_024304270.1:p.Glu335Gln
XM_024448503.1:c.973G>C	XP_024304271.1:p.Glu325Gln
XM_024448504.1:c.937G>C	XP_024304272.1:p.Glu313Gln
XM_024448505.1:c.1003G>C	XP_024304273.1:p.Glu335Gln
NM_001567.4:c.937G>C MANE Select	NP_001558.3:p.Glu313Gln