Canonical Allele Identifier: CA6498478
Gene: IPO8 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.30630927C>A , CM000674.2:g.30630927C>A GRCh38
NC_000012.11:g.30783861C>A , CM000674.1:g.30783861C>A GRCh37
NC_000012.10:g.30675128C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000256079.9:c.3047G>T MANE Select ENSP00000256079.4:p.Gly1016Val
ENST00000256079.8:c.3047G>T ENSP00000256079.4:p.Gly1016Val
ENST00000544829.5:c.2432G>T ENSP00000444520.1:p.Gly811Val
NM_001190995.1:c.2432G>T NP_001177924.1:p.Gly811Val
NM_006390.3:c.3047G>T NP_006381.2:p.Gly1016Val
XM_011520546.1:c.3143G>T XP_011518848.1:p.Gly1048Val
XM_011520547.1:c.3092G>T XP_011518849.1:p.Gly1031Val
XM_017018691.2:c.2996G>T XP_016874180.1:p.Gly999Val
XM_017018692.1:c.2861G>T XP_016874181.1:p.Gly954Val
NM_006390.4:c.3047G>T MANE Select NP_006381.2:p.Gly1016Val
NM_001190995.2:c.2432G>T NP_001177924.1:p.Gly811Val