Canonical Allele Identifier: CA4340892

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92492965C>T , CM000669.2:g.92492965C>T	GRCh38
NC_000007.13:g.92122279C>T , CM000669.1:g.92122279C>T	GRCh37
NC_000007.12:g.91960215C>T	NCBI36
NG_008341.1:g.40567G>A
NG_008341.2:g.40567G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000466.3:c.3195G>A (PEX1) MANE Select	NP_000457.1:p.Ser1065=
ENST00000248633.9:c.3195G>A (PEX1) MANE Select	ENSP00000248633.4:p.Ser1065=
NM_000466.2:c.3195G>A (PEX1)	NP_000457.1:p.Ser1065=
NM_001282677.1:c.3024G>A (PEX1)	NP_001269606.1:p.Ser1008=
NM_001282677.2:c.3024G>A (PEX1)	NP_001269606.1:p.Ser1008=
NM_001282678.1:c.2571G>A (PEX1)	NP_001269607.1:p.Ser857=
NM_001282678.2:c.2571G>A (PEX1)	NP_001269607.1:p.Ser857=
ENST00000248633.8:c.3195G>A (PEX1)	ENSP00000248633.4:p.Ser1065=
ENST00000428214.5:c.3024G>A (PEX1)	ENSP00000394413.1:p.Ser1008=
ENST00000438045.5:c.2229G>A (PEX1)	ENSP00000410438.1:p.Ser743=
ENST00000484913.5:n.3234G>A (PEX1)
ENST00000496420.5:n.4250G>A (PEX1)
XM_005250433.3:c.1446G>A (PEX1)	XP_005250490.1:p.Ser482=
XM_017012319.2:c.1446G>A (PEX1)	XP_016867808.1:p.Ser482=
XR_001744808.2:n.2222G>A (PEX1)
XR_001744842.2:n.4003C>T (GATAD1)
XR_001744843.2:n.3934C>T (GATAD1)
XR_002956472.1:n.4060C>T (GATAD1)
XR_002956473.1:n.4091C>T (GATAD1)
XR_002956474.1:n.4008C>T (GATAD1)
XR_242246.3:n.3291G>A (PEX1)
XR_242246.5:n.3242G>A (PEX1)
XR_927494.3:n.2785C>T (GATAD1)
XR_927500.3:n.2782C>T (GATAD1)
XR_927503.3:n.2716C>T (GATAD1)