Canonical Allele Identifier: CA456481568

Gene: PEX1 GATAD1

Linked Data

• ClinVar Variation Id: 792909
• ClinVar RCV Id: RCV002548402
• dbSNP Id: rs1585221185
• gnomAD v3: 7-92494518-C-G
• gnomAD v4: 7-92494518-C-G
• MyVariant Identifiers: chr7:g.92123832C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494518C>G , CM000669.2:g.92494518C>G	GRCh38
NC_000007.13:g.92123832C>G , CM000669.1:g.92123832C>G	GRCh37
NC_000007.12:g.91961768C>G	NCBI36
NG_008341.1:g.39014G>C
NG_008341.2:g.39014G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2895G>C (PEX1) MANE Select	ENSP00000248633.4:p.Leu965=
ENST00000248633.8:c.2895G>C (PEX1)	ENSP00000248633.4:p.Leu965=
ENST00000428214.5:c.2724G>C (PEX1)	ENSP00000394413.1:p.Leu908=
ENST00000438045.5:c.1929G>C (PEX1)	ENSP00000410438.1:p.Leu643=
ENST00000484913.5:n.2934G>C (PEX1)
ENST00000496420.5:n.2787G>C (PEX1)
NM_000466.2:c.2895G>C (PEX1)	NP_000457.1:p.Leu965=
NM_001282677.1:c.2724G>C (PEX1)	NP_001269606.1:p.Leu908=
NM_001282678.1:c.2271G>C (PEX1)	NP_001269607.1:p.Leu757=
XM_005250433.3:c.1146G>C (PEX1)	XP_005250490.1:p.Leu382=
XR_242246.3:n.2991G>C (PEX1)
XM_017012319.2:c.1146G>C (PEX1)	XP_016867808.1:p.Leu382=
XR_001744808.2:n.1922G>C (PEX1)
XR_001744843.2:n.5487C>G (GATAD1)
XR_242246.5:n.2942G>C (PEX1)
XR_927494.3:n.4338C>G (GATAD1)
XR_927503.3:n.4269C>G (GATAD1)
NM_000466.3:c.2895G>C (PEX1) MANE Select	NP_000457.1:p.Leu965=
NM_001282677.2:c.2724G>C (PEX1)	NP_001269606.1:p.Leu908=
NM_001282678.2:c.2271G>C (PEX1)	NP_001269607.1:p.Leu757=