Canonical Allele Identifier: CA16041148

Gene: PEX1 GATAD1

Linked Data

• ClinVar Variation Id: 371716
• ClinVar RCV Id: RCV003319350 ; RCV003475982
• dbSNP Id: rs1057517481
• gnomAD v4: 7-92494538-G-A
• MyVariant Identifiers: chr7:g.92123852G>A (hg19) ; chr7:g.92494538G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494538G>A , CM000669.2:g.92494538G>A	GRCh38
NC_000007.13:g.92123852G>A , CM000669.1:g.92123852G>A	GRCh37
NC_000007.12:g.91961788G>A	NCBI36
NG_008341.1:g.38994C>T
NG_008341.2:g.38994C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2875C>T (PEX1) MANE Select	ENSP00000248633.4:p.Arg959Ter
ENST00000248633.8:c.2875C>T (PEX1)	ENSP00000248633.4:p.Arg959Ter
ENST00000428214.5:c.2704C>T (PEX1)	ENSP00000394413.1:p.Arg902Ter
ENST00000438045.5:c.1909C>T (PEX1)	ENSP00000410438.1:p.Arg637Ter
ENST00000484913.5:n.2914C>T (PEX1)
ENST00000496420.5:n.2767C>T (PEX1)
NM_000466.2:c.2875C>T (PEX1)	NP_000457.1:p.Arg959Ter
NM_001282677.1:c.2704C>T (PEX1)	NP_001269606.1:p.Arg902Ter
NM_001282678.1:c.2251C>T (PEX1)	NP_001269607.1:p.Arg751Ter
XM_005250433.3:c.1126C>T (PEX1)	XP_005250490.1:p.Arg376Ter
XR_242246.3:n.2971C>T (PEX1)
XM_017012319.2:c.1126C>T (PEX1)	XP_016867808.1:p.Arg376Ter
XR_001744808.2:n.1902C>T (PEX1)
XR_001744843.2:n.5507G>A (GATAD1)
XR_242246.5:n.2922C>T (PEX1)
XR_927494.3:n.4358G>A (GATAD1)
XR_927503.3:n.4289G>A (GATAD1)
NM_000466.3:c.2875C>T (PEX1) MANE Select	NP_000457.1:p.Arg959Ter
NM_001282677.2:c.2704C>T (PEX1)	NP_001269606.1:p.Arg902Ter
NM_001282678.2:c.2251C>T (PEX1)	NP_001269607.1:p.Arg751Ter