Canonical Allele Identifier: CA381755617

Gene: INPPL1

Linked Data

• gnomAD v4: 11-72225130-G-T
• MyVariant Identifiers: chr11:g.71936174G>T (hg19) ; chr11:g.72225130G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72225130G>T , CM000673.2:g.72225130G>T	GRCh38
NC_000011.9:g.71936174G>T , CM000673.1:g.71936174G>T	GRCh37
NC_000011.8:g.71613822G>T	NCBI36
NG_023253.1:g.5293G>T
NG_023253.2:g.5293G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298229.7:c.146G>T MANE Select	ENSP00000298229.2:p.Ser49Ile
ENST00000298229.6:c.146G>T	ENSP00000298229.2:p.Ser49Ile
ENST00000541544.1:n.62G>T
NM_001567.3:c.146G>T	NP_001558.3:p.Ser49Ile
XM_005273978.3:c.146G>T	XP_005274035.1:p.Ser49Ile
XM_005273979.3:c.146G>T	XP_005274036.1:p.Ser49Ile
XM_011544999.1:c.146G>T	XP_011543301.1:p.Ser49Ile
XM_011545000.1:c.146G>T	XP_011543302.1:p.Ser49Ile
XM_005273979.4:c.146G>T	XP_005274036.1:p.Ser49Ile
XM_011544999.2:c.146G>T	XP_011543301.1:p.Ser49Ile
XM_024448501.1:c.146G>T	XP_024304269.1:p.Ser49Ile
XM_024448502.1:c.146G>T	XP_024304270.1:p.Ser49Ile
XM_024448503.1:c.25G>T	XP_024304271.1:p.Ala9Ser
XM_024448504.1:c.146G>T	XP_024304272.1:p.Ser49Ile
XM_024448505.1:c.146G>T	XP_024304273.1:p.Ser49Ile
NM_001567.4:c.146G>T MANE Select	NP_001558.3:p.Ser49Ile