Canonical Allele Identifier: CA1725928449

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491406A= , CM000669.2:g.92491406A=	GRCh38
NC_000007.13:g.92120720A= , CM000669.1:g.92120720A=	GRCh37
NC_000007.12:g.91958656A=	NCBI36
NG_008341.1:g.42126T=
NG_008341.2:g.42126T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.3304T= (PEX1) MANE Select	ENSP00000248633.4:p.Cys1102=
ENST00000248633.8:c.3304T= (PEX1)	ENSP00000248633.4:p.Cys1102=
ENST00000428214.5:c.3133T= (PEX1)	ENSP00000394413.1:p.Cys1045=
ENST00000438045.5:c.2338T= (PEX1)	ENSP00000410438.1:p.Cys780=
ENST00000484913.5:n.3343T= (PEX1)
ENST00000496420.5:n.4359T= (PEX1)
NM_000466.2:c.3304T= (PEX1)	NP_000457.1:p.Cys1102=
NM_001282677.1:c.3133T= (PEX1)	NP_001269606.1:p.Cys1045=
NM_001282678.1:c.2680T= (PEX1)	NP_001269607.1:p.Cys894=
XM_005250433.3:c.1555T= (PEX1)	XP_005250490.1:p.Cys519=
XR_242246.3:n.3400T= (PEX1)
XM_017012319.2:c.1555T= (PEX1)	XP_016867808.1:p.Cys519=
XR_001744808.2:n.2331T= (PEX1)
XR_001744842.2:n.2444A= (GATAD1)
XR_001744843.2:n.2375A= (GATAD1)
XR_002956472.1:n.2501A= (GATAD1)
XR_002956473.1:n.2532A= (GATAD1)
XR_002956474.1:n.2449A= (GATAD1)
XR_242246.5:n.3351T= (PEX1)
XR_927494.3:n.1226A= (GATAD1)
XR_927500.3:n.1223A= (GATAD1)
XR_927503.3:n.1157A= (GATAD1)
NM_000466.3:c.3304T= (PEX1) MANE Select	NP_000457.1:p.Cys1102=
NM_001282677.2:c.3133T= (PEX1)	NP_001269606.1:p.Cys1045=
NM_001282678.2:c.2680T= (PEX1)	NP_001269607.1:p.Cys894=