Canonical Allele Identifier: CA10575901

Gene: PEX1

Linked Data

• ClinVar Variation Id: 224324
• ClinVar RCV Id: RCV000240738 ; RCV001383603
• dbSNP Id: rs886037783
• MyVariant Identifiers: chr7:g.92136319del (hg19) ; chr7:g.92507005del (hg38)
• PubMed: PMID:27302843

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92507005del , CM000669.2:g.92507005del	GRCh38
NC_000007.13:g.92136319del , CM000669.1:g.92136319del	GRCh37
NC_000007.12:g.91974255del	NCBI36
NG_008341.1:g.26527del
NG_008341.2:g.26527del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1792del MANE Select	ENSP00000248633.4:p.Thr598GlnfsTer11
ENST00000248633.8:c.1792del	ENSP00000248633.4:p.Thr598GlnfsTer11
ENST00000422866.1:c.610del
ENST00000428214.5:c.1792del	ENSP00000394413.1:p.Thr598GlnfsTer11
ENST00000438045.5:c.826del	ENSP00000410438.1:p.Thr276GlnfsTer11
ENST00000484913.5:n.1831del
ENST00000496420.5:n.819del
NM_000466.2:c.1792del	NP_000457.1:p.Thr598GlnfsTer11
NM_001282677.1:c.1792del	NP_001269606.1:p.Thr598GlnfsTer11
NM_001282678.1:c.1168del	NP_001269607.1:p.Thr390GlnfsTer11
XM_005250433.3:c.43del	XP_005250490.1:p.Thr15GlnfsTer11
XR_242246.3:n.1888del
XM_017012319.2:c.43del	XP_016867808.1:p.Thr15GlnfsTer11
XR_001744808.2:n.819del
XR_242246.5:n.1839del
NM_000466.3:c.1792del MANE Select	NP_000457.1:p.Thr598GlnfsTer11
NM_001282677.2:c.1792del	NP_001269606.1:p.Thr598GlnfsTer11
NM_001282678.2:c.1168del	NP_001269607.1:p.Thr390GlnfsTer11