Canonical Allele Identifier: CA229009

Gene: PEX1 GATAD1

Linked Data

• ClinVar Variation Id: 100813
• ClinVar RCV Id: RCV000087171
• dbSNP Id: rs483352694
• MyVariant Identifiers: chr7:g.92118729T>A (hg19) ; chr7:g.92489415T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489415T>A , CM000669.2:g.92489415T>A	GRCh38
NC_000007.13:g.92118729T>A , CM000669.1:g.92118729T>A	GRCh37
NC_000007.12:g.91956665T>A	NCBI36
NG_008341.1:g.44117A>T
NG_008341.2:g.44117A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3645A>T (PEX1) MANE Select	ENSP00000248633.4:p.Glu1215Asp
ENST00000248633.8:c.3645A>T (PEX1)	ENSP00000248633.4:p.Glu1215Asp
ENST00000428214.5:c.3474A>T (PEX1)	ENSP00000394413.1:p.Glu1158Asp
ENST00000438045.5:c.2679A>T (PEX1)	ENSP00000410438.1:p.Glu893Asp
ENST00000469417.1:n.542A>T (PEX1)
ENST00000477342.1:n.380A>T (PEX1)
ENST00000484913.5:n.3684A>T (PEX1)
ENST00000496420.5:n.4695A>T (PEX1)
NM_000466.2:c.3645A>T (PEX1)	NP_000457.1:p.Glu1215Asp
NM_001282677.1:c.3474A>T (PEX1)	NP_001269606.1:p.Glu1158Asp
NM_001282678.1:c.3021A>T (PEX1)	NP_001269607.1:p.Glu1007Asp
XM_005250433.3:c.1896A>T (PEX1)	XP_005250490.1:p.Glu632Asp
XR_242246.3:n.3736A>T (PEX1)
XR_927494.1:n.1036-1828T>A (GATAD1)
XR_927495.1:n.1036-671T>A (GATAD1)
XR_927496.1:n.1041-1828T>A (GATAD1)
XR_927497.1:n.1036-671T>A (GATAD1)
XR_927498.1:n.1124-1828T>A (GATAD1)
XR_927500.1:n.1033-1828T>A (GATAD1)
XR_927502.1:n.1033-671T>A (GATAD1)
XR_927503.1:n.967-1828T>A (GATAD1)
XM_017012319.2:c.1896A>T (PEX1)	XP_016867808.1:p.Glu632Asp
XR_001744808.2:n.2667A>T (PEX1)
XR_001744842.2:n.2281-1828T>A (GATAD1)
XR_001744843.2:n.2212-1828T>A (GATAD1)
XR_002956472.1:n.2281-671T>A (GATAD1)
XR_002956473.1:n.2369-1828T>A (GATAD1)
XR_002956474.1:n.2286-1828T>A (GATAD1)
XR_242246.5:n.3687A>T (PEX1)
XR_927494.3:n.1063-1828T>A (GATAD1)
XR_927500.3:n.1060-1828T>A (GATAD1)
XR_927503.3:n.994-1828T>A (GATAD1)
NM_000466.3:c.3645A>T (PEX1) MANE Select	NP_000457.1:p.Glu1215Asp
NM_001282677.2:c.3474A>T (PEX1)	NP_001269606.1:p.Glu1158Asp
NM_001282678.2:c.3021A>T (PEX1)	NP_001269607.1:p.Glu1007Asp