Canonical Allele Identifier: CA384233269

Gene: IPO8

Linked Data

• ClinVar Variation Id: 2070383
• ClinVar RCV Id: RCV002967095
• MyVariant Identifiers: chr12:g.30843512C>G (hg19) ; chr12:g.30690578C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.30690578C>G , CM000674.2:g.30690578C>G	GRCh38
NC_000012.11:g.30843512C>G , CM000674.1:g.30843512C>G	GRCh37
NC_000012.10:g.30734779C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256079.9:c.85-1G>C MANE Select	ENSP00000256079.4:n.85-1G>C
ENST00000256079.8:c.85-1G>C	ENSP00000256079.4:n.85-1G>C
ENST00000540979.1:c.85-30G>C	ENSP00000443789.1:n.85-30G>C
ENST00000545077.1:c.34-1G>C	ENSP00000446254.1:n.34-1G>C
NM_006390.3:c.85-1G>C	NP_006381.2:n.85-1G>C
XM_011520546.1:c.85-1G>C	XP_011518848.1:n.85-1G>C
XM_011520547.1:c.34-1G>C	XP_011518849.1:n.34-1G>C
XM_011520548.1:c.85-1G>C	XP_011518850.1:n.85-1G>C
XM_011520549.1:c.85-1G>C	XP_011518851.1:n.85-1G>C
XM_017018691.2:c.34-1G>C	XP_016874180.1:n.34-1G>C
XM_017018693.2:c.85-1G>C	XP_016874182.1:n.85-1G>C
NM_006390.4:c.85-1G>C MANE Select	NP_006381.2:n.85-1G>C