Canonical Allele Identifier: CA381723558
Gene: INPPL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72230121G>T , CM000673.2:g.72230121G>T GRCh38
NC_000011.9:g.71941165G>T , CM000673.1:g.71941165G>T GRCh37
NC_000011.8:g.71618813G>T NCBI36
NG_023253.1:g.10284G>T
NG_023253.2:g.10284G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000298229.7:c.940G>T MANE Select ENSP00000298229.2:p.Val314Leu
ENST00000298229.6:c.940G>T ENSP00000298229.2:p.Val314Leu
ENST00000538751.5:c.214G>T ENSP00000444619.1:p.Val72Leu
ENST00000540329.5:c.124G>T ENSP00000440018.1:p.Val42Leu
ENST00000541756.5:c.742G>T ENSP00000446360.2:p.Val248Leu
NM_001567.3:c.940G>T NP_001558.3:p.Val314Leu
XM_005273978.3:c.1006G>T XP_005274035.1:p.Val336Leu
XM_005273979.3:c.1006G>T XP_005274036.1:p.Val336Leu
XM_011544999.1:c.940G>T XP_011543301.1:p.Val314Leu
XM_011545000.1:c.1006G>T XP_011543302.1:p.Val336Leu
XM_005273979.4:c.1006G>T XP_005274036.1:p.Val336Leu
XM_011544999.2:c.940G>T XP_011543301.1:p.Val314Leu
XM_024448501.1:c.1006G>T XP_024304269.1:p.Val336Leu
XM_024448502.1:c.1006G>T XP_024304270.1:p.Val336Leu
XM_024448503.1:c.976G>T XP_024304271.1:p.Val326Leu
XM_024448504.1:c.940G>T XP_024304272.1:p.Val314Leu
XM_024448505.1:c.1006G>T XP_024304273.1:p.Val336Leu
NM_001567.4:c.940G>T MANE Select NP_001558.3:p.Val314Leu