Canonical Allele Identifier: CA1725928663

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491548T= , CM000669.2:g.92491548T=	GRCh38
NC_000007.13:g.92120862T= , CM000669.1:g.92120862T=	GRCh37
NC_000007.12:g.91958798T=	NCBI36
NG_008341.1:g.41984A=
NG_008341.2:g.41984A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3208-46A= (PEX1) MANE Select	ENSP00000248633.4:n.3208-46A=
ENST00000248633.8:c.3208-46A= (PEX1)	ENSP00000248633.4:n.3208-46A=
ENST00000428214.5:c.3037-46A= (PEX1)	ENSP00000394413.1:n.3037-46A=
ENST00000438045.5:c.2242-46A= (PEX1)	ENSP00000410438.1:n.2242-46A=
ENST00000484913.5:n.3247-46A= (PEX1)
ENST00000496420.5:n.4263-46A= (PEX1)
NM_000466.2:c.3208-46A= (PEX1)	NP_000457.1:n.3208-46A=
NM_001282677.1:c.3037-46A= (PEX1)	NP_001269606.1:n.3037-46A=
NM_001282678.1:c.2584-46A= (PEX1)	NP_001269607.1:n.2584-46A=
XM_005250433.3:c.1459-46A= (PEX1)	XP_005250490.1:n.1459-46A=
XR_242246.3:n.3304-46A= (PEX1)
XM_017012319.2:c.1459-46A= (PEX1)	XP_016867808.1:n.1459-46A=
XR_001744808.2:n.2235-46A= (PEX1)
XR_001744842.2:n.2586T= (GATAD1)
XR_001744843.2:n.2517T= (GATAD1)
XR_002956472.1:n.2643T= (GATAD1)
XR_002956473.1:n.2674T= (GATAD1)
XR_002956474.1:n.2591T= (GATAD1)
XR_242246.5:n.3255-46A= (PEX1)
XR_927494.3:n.1368T= (GATAD1)
XR_927500.3:n.1365T= (GATAD1)
XR_927503.3:n.1299T= (GATAD1)
NM_000466.3:c.3208-46A= (PEX1) MANE Select	NP_000457.1:n.3208-46A=
NM_001282677.2:c.3037-46A= (PEX1)	NP_001269606.1:n.3037-46A=
NM_001282678.2:c.2584-46A= (PEX1)	NP_001269607.1:n.2584-46A=