Canonical Allele Identifier: CA1725928478

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491423G= , CM000669.2:g.92491423G=	GRCh38
NC_000007.13:g.92120737G= , CM000669.1:g.92120737G=	GRCh37
NC_000007.12:g.91958673G=	NCBI36
NG_008341.1:g.42109C=
NG_008341.2:g.42109C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3287C= (PEX1) MANE Select	ENSP00000248633.4:p.Ser1096=
ENST00000248633.8:c.3287C= (PEX1)	ENSP00000248633.4:p.Ser1096=
ENST00000428214.5:c.3116C= (PEX1)	ENSP00000394413.1:p.Ser1039=
ENST00000438045.5:c.2321C= (PEX1)	ENSP00000410438.1:p.Ser774=
ENST00000484913.5:n.3326C= (PEX1)
ENST00000496420.5:n.4342C= (PEX1)
NM_000466.2:c.3287C= (PEX1)	NP_000457.1:p.Ser1096=
NM_001282677.1:c.3116C= (PEX1)	NP_001269606.1:p.Ser1039=
NM_001282678.1:c.2663C= (PEX1)	NP_001269607.1:p.Ser888=
XM_005250433.3:c.1538C= (PEX1)	XP_005250490.1:p.Ser513=
XR_242246.3:n.3383C= (PEX1)
XM_017012319.2:c.1538C= (PEX1)	XP_016867808.1:p.Ser513=
XR_001744808.2:n.2314C= (PEX1)
XR_001744842.2:n.2461G= (GATAD1)
XR_001744843.2:n.2392G= (GATAD1)
XR_002956472.1:n.2518G= (GATAD1)
XR_002956473.1:n.2549G= (GATAD1)
XR_002956474.1:n.2466G= (GATAD1)
XR_242246.5:n.3334C= (PEX1)
XR_927494.3:n.1243G= (GATAD1)
XR_927500.3:n.1240G= (GATAD1)
XR_927503.3:n.1174G= (GATAD1)
NM_000466.3:c.3287C= (PEX1) MANE Select	NP_000457.1:p.Ser1096=
NM_001282677.2:c.3116C= (PEX1)	NP_001269606.1:p.Ser1039=
NM_001282678.2:c.2663C= (PEX1)	NP_001269607.1:p.Ser888=