Canonical Allele Identifier: CA1725928352

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491366T= , CM000669.2:g.92491366T=	GRCh38
NC_000007.13:g.92120680T= , CM000669.1:g.92120680T=	GRCh37
NC_000007.12:g.91958616T=	NCBI36
NG_008341.1:g.42166A=
NG_008341.2:g.42166A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3344A= (PEX1) MANE Select	ENSP00000248633.4:p.Glu1115=
ENST00000248633.8:c.3344A= (PEX1)	ENSP00000248633.4:p.Glu1115=
ENST00000428214.5:c.3173A= (PEX1)	ENSP00000394413.1:p.Glu1058=
ENST00000438045.5:c.2378A= (PEX1)	ENSP00000410438.1:p.Glu793=
ENST00000484913.5:n.3383A= (PEX1)
ENST00000496420.5:n.4399A= (PEX1)
NM_000466.2:c.3344A= (PEX1)	NP_000457.1:p.Glu1115=
NM_001282677.1:c.3173A= (PEX1)	NP_001269606.1:p.Glu1058=
NM_001282678.1:c.2720A= (PEX1)	NP_001269607.1:p.Glu907=
XM_005250433.3:c.1595A= (PEX1)	XP_005250490.1:p.Glu532=
XR_242246.3:n.3440A= (PEX1)
XM_017012319.2:c.1595A= (PEX1)	XP_016867808.1:p.Glu532=
XR_001744808.2:n.2371A= (PEX1)
XR_001744842.2:n.2404T= (GATAD1)
XR_001744843.2:n.2335T= (GATAD1)
XR_002956472.1:n.2461T= (GATAD1)
XR_002956473.1:n.2492T= (GATAD1)
XR_002956474.1:n.2409T= (GATAD1)
XR_242246.5:n.3391A= (PEX1)
XR_927494.3:n.1186T= (GATAD1)
XR_927500.3:n.1183T= (GATAD1)
XR_927503.3:n.1117T= (GATAD1)
NM_000466.3:c.3344A= (PEX1) MANE Select	NP_000457.1:p.Glu1115=
NM_001282677.2:c.3173A= (PEX1)	NP_001269606.1:p.Glu1058=
NM_001282678.2:c.2720A= (PEX1)	NP_001269607.1:p.Glu907=