Canonical Allele Identifier: CA456481469

Gene: PEX1 GATAD1

Linked Data

• ClinVar Variation Id: 3000392
• ClinVar RCV Id: RCV003857567
• MyVariant Identifiers: chr7:g.92123670A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494356A>G , CM000669.2:g.92494356A>G	GRCh38
NC_000007.13:g.92123670A>G , CM000669.1:g.92123670A>G	GRCh37
NC_000007.12:g.91961606A>G	NCBI36
NG_008341.1:g.39176T>C
NG_008341.2:g.39176T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2967T>C (PEX1) MANE Select	ENSP00000248633.4:p.Ile989=
ENST00000248633.8:c.2967T>C (PEX1)	ENSP00000248633.4:p.Ile989=
ENST00000428214.5:c.2796T>C (PEX1)	ENSP00000394413.1:p.Ile932=
ENST00000438045.5:c.2001T>C (PEX1)	ENSP00000410438.1:p.Ile667=
ENST00000484913.5:n.3006T>C (PEX1)
ENST00000496420.5:n.2859T>C (PEX1)
NM_000466.2:c.2967T>C (PEX1)	NP_000457.1:p.Ile989=
NM_001282677.1:c.2796T>C (PEX1)	NP_001269606.1:p.Ile932=
NM_001282678.1:c.2343T>C (PEX1)	NP_001269607.1:p.Ile781=
XM_005250433.3:c.1218T>C (PEX1)	XP_005250490.1:p.Ile406=
XR_242246.3:n.3063T>C (PEX1)
XM_017012319.2:c.1218T>C (PEX1)	XP_016867808.1:p.Ile406=
XR_001744808.2:n.1994T>C (PEX1)
XR_001744843.2:n.5325A>G (GATAD1)
XR_242246.5:n.3014T>C (PEX1)
XR_927494.3:n.4176A>G (GATAD1)
XR_927503.3:n.4107A>G (GATAD1)
NM_000466.3:c.2967T>C (PEX1) MANE Select	NP_000457.1:p.Ile989=
NM_001282677.2:c.2796T>C (PEX1)	NP_001269606.1:p.Ile932=
NM_001282678.2:c.2343T>C (PEX1)	NP_001269607.1:p.Ile781=