Canonical Allele Identifier: CA381722879

Gene: INPPL1

Linked Data

• dbSNP Id: rs1237055150
• gnomAD v2: 11-71940996-C-T
• gnomAD v3: 11-72229952-C-T
• gnomAD v4: 11-72229952-C-T
• MyVariant Identifiers: chr11:g.71940996C>T (hg19) ; chr11:g.72229952C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72229952C>T , CM000673.2:g.72229952C>T	GRCh38
NC_000011.9:g.71940996C>T , CM000673.1:g.71940996C>T	GRCh37
NC_000011.8:g.71618644C>T	NCBI36
NG_023253.1:g.10115C>T
NG_023253.2:g.10115C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298229.7:c.872C>T MANE Select	ENSP00000298229.2:p.Ser291Phe
ENST00000298229.6:c.872C>T	ENSP00000298229.2:p.Ser291Phe
ENST00000538751.5:c.146C>T	ENSP00000444619.1:p.Ser49Phe
ENST00000540329.5:c.56C>T	ENSP00000440018.1:p.Ser19Phe
ENST00000541756.5:c.674C>T	ENSP00000446360.2:p.Ser225Phe
NM_001567.3:c.872C>T	NP_001558.3:p.Ser291Phe
XM_005273978.3:c.938C>T	XP_005274035.1:p.Ser313Phe
XM_005273979.3:c.938C>T	XP_005274036.1:p.Ser313Phe
XM_011544999.1:c.872C>T	XP_011543301.1:p.Ser291Phe
XM_011545000.1:c.938C>T	XP_011543302.1:p.Ser313Phe
XM_005273979.4:c.938C>T	XP_005274036.1:p.Ser313Phe
XM_011544999.2:c.872C>T	XP_011543301.1:p.Ser291Phe
XM_024448501.1:c.938C>T	XP_024304269.1:p.Ser313Phe
XM_024448502.1:c.938C>T	XP_024304270.1:p.Ser313Phe
XM_024448503.1:c.908C>T	XP_024304271.1:p.Ser303Phe
XM_024448504.1:c.872C>T	XP_024304272.1:p.Ser291Phe
XM_024448505.1:c.938C>T	XP_024304273.1:p.Ser313Phe
NM_001567.4:c.872C>T MANE Select	NP_001558.3:p.Ser291Phe