Canonical Allele Identifier: CA381725152

Gene: INPPL1

Linked Data

• gnomAD v4: 11-72230388-G-C
• MyVariant Identifiers: chr11:g.71941432G>C (hg19) ; chr11:g.72230388G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72230388G>C , CM000673.2:g.72230388G>C	GRCh38
NC_000011.9:g.71941432G>C , CM000673.1:g.71941432G>C	GRCh37
NC_000011.8:g.71619080G>C	NCBI36
NG_023253.1:g.10551G>C
NG_023253.2:g.10551G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298229.7:c.1117G>C MANE Select	ENSP00000298229.2:p.Val373Leu
ENST00000298229.6:c.1117G>C	ENSP00000298229.2:p.Val373Leu
ENST00000538751.5:c.391G>C	ENSP00000444619.1:p.Val131Leu
ENST00000540329.5:c.301G>C	ENSP00000440018.1:p.Val101Leu
ENST00000541756.5:c.919G>C	ENSP00000446360.2:p.Val307Leu
NM_001567.3:c.1117G>C	NP_001558.3:p.Val373Leu
XM_005273978.3:c.1183G>C	XP_005274035.1:p.Val395Leu
XM_005273979.3:c.1183G>C	XP_005274036.1:p.Val395Leu
XM_011544999.1:c.1117G>C	XP_011543301.1:p.Val373Leu
XM_011545000.1:c.1183G>C	XP_011543302.1:p.Val395Leu
XM_005273979.4:c.1183G>C	XP_005274036.1:p.Val395Leu
XM_011544999.2:c.1117G>C	XP_011543301.1:p.Val373Leu
XM_024448501.1:c.1183G>C	XP_024304269.1:p.Val395Leu
XM_024448502.1:c.1183G>C	XP_024304270.1:p.Val395Leu
XM_024448503.1:c.1153G>C	XP_024304271.1:p.Val385Leu
XM_024448504.1:c.1117G>C	XP_024304272.1:p.Val373Leu
XM_024448505.1:c.1183G>C	XP_024304273.1:p.Val395Leu
NM_001567.4:c.1117G>C MANE Select	NP_001558.3:p.Val373Leu