Canonical Allele Identifier: CA368167366

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92123637A>T (hg19) ; chr7:g.92494323A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494323A>T , CM000669.2:g.92494323A>T	GRCh38
NC_000007.13:g.92123637A>T , CM000669.1:g.92123637A>T	GRCh37
NC_000007.12:g.91961573A>T	NCBI36
NG_008341.1:g.39209T>A
NG_008341.2:g.39209T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3000T>A (PEX1) MANE Select	ENSP00000248633.4:p.Asp1000Glu
ENST00000248633.8:c.3000T>A (PEX1)	ENSP00000248633.4:p.Asp1000Glu
ENST00000428214.5:c.2829T>A (PEX1)	ENSP00000394413.1:p.Asp943Glu
ENST00000438045.5:c.2034T>A (PEX1)	ENSP00000410438.1:p.Asp678Glu
ENST00000484913.5:n.3039T>A (PEX1)
ENST00000496420.5:n.2892T>A (PEX1)
NM_000466.2:c.3000T>A (PEX1)	NP_000457.1:p.Asp1000Glu
NM_001282677.1:c.2829T>A (PEX1)	NP_001269606.1:p.Asp943Glu
NM_001282678.1:c.2376T>A (PEX1)	NP_001269607.1:p.Asp792Glu
XM_005250433.3:c.1251T>A (PEX1)	XP_005250490.1:p.Asp417Glu
XR_242246.3:n.3096T>A (PEX1)
XM_017012319.2:c.1251T>A (PEX1)	XP_016867808.1:p.Asp417Glu
XR_001744808.2:n.2027T>A (PEX1)
XR_001744843.2:n.5292A>T (GATAD1)
XR_242246.5:n.3047T>A (PEX1)
XR_927494.3:n.4143A>T (GATAD1)
XR_927503.3:n.4074A>T (GATAD1)
NM_000466.3:c.3000T>A (PEX1) MANE Select	NP_000457.1:p.Asp1000Glu
NM_001282677.2:c.2829T>A (PEX1)	NP_001269606.1:p.Asp943Glu
NM_001282678.2:c.2376T>A (PEX1)	NP_001269607.1:p.Asp792Glu