Canonical Allele Identifier: CA918073926

Gene: PEX1 GATAD1

Linked Data

• ClinVar Variation Id: 970709
• ClinVar RCV Id: RCV001246328
• dbSNP Id: rs1562847911

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494322dup , CM000669.2:g.92494322dup	GRCh38
NC_000007.13:g.92123636dup , CM000669.1:g.92123636dup	GRCh37
NC_000007.12:g.91961572dup	NCBI36
NG_008341.1:g.39212dup
NG_008341.2:g.39212dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.3003dup (PEX1) MANE Select	ENSP00000248633.4:p.Cys1002MetfsTer8
ENST00000248633.8:c.3003dup (PEX1)	ENSP00000248633.4:p.Cys1002MetfsTer8
ENST00000428214.5:c.2832dup (PEX1)	ENSP00000394413.1:p.Cys945MetfsTer8
ENST00000438045.5:c.2037dup (PEX1)	ENSP00000410438.1:p.Cys680MetfsTer8
ENST00000484913.5:n.3042dup (PEX1)
ENST00000496420.5:n.2895dup (PEX1)
NM_000466.2:c.3003dup (PEX1)	NP_000457.1:p.Cys1002MetfsTer8
NM_001282677.1:c.2832dup (PEX1)	NP_001269606.1:p.Cys945MetfsTer8
NM_001282678.1:c.2379dup (PEX1)	NP_001269607.1:p.Cys794MetfsTer8
XM_005250433.3:c.1254dup (PEX1)	XP_005250490.1:p.Cys419MetfsTer8
XR_242246.3:n.3099dup (PEX1)
XM_017012319.2:c.1254dup (PEX1)	XP_016867808.1:p.Cys419MetfsTer8
XR_001744808.2:n.2030dup (PEX1)
XR_001744843.2:n.5291dup (GATAD1)
XR_242246.5:n.3050dup (PEX1)
XR_927494.3:n.4142dup (GATAD1)
XR_927503.3:n.4073dup (GATAD1)
NM_000466.3:c.3003dup (PEX1) MANE Select	NP_000457.1:p.Cys1002MetfsTer8
NM_001282677.2:c.2832dup (PEX1)	NP_001269606.1:p.Cys945MetfsTer8
NM_001282678.2:c.2379dup (PEX1)	NP_001269607.1:p.Cys794MetfsTer8