Canonical Allele Identifier: CA1725931129

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494359C= , CM000669.2:g.92494359C=	GRCh38
NC_000007.13:g.92123673C= , CM000669.1:g.92123673C=	GRCh37
NC_000007.12:g.91961609C=	NCBI36
NG_008341.1:g.39173G=
NG_008341.2:g.39173G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2964G= (PEX1) MANE Select	ENSP00000248633.4:p.Leu988=
ENST00000248633.8:c.2964G= (PEX1)	ENSP00000248633.4:p.Leu988=
ENST00000428214.5:c.2793G= (PEX1)	ENSP00000394413.1:p.Leu931=
ENST00000438045.5:c.1998G= (PEX1)	ENSP00000410438.1:p.Leu666=
ENST00000484913.5:n.3003G= (PEX1)
ENST00000496420.5:n.2856G= (PEX1)
NM_000466.2:c.2964G= (PEX1)	NP_000457.1:p.Leu988=
NM_001282677.1:c.2793G= (PEX1)	NP_001269606.1:p.Leu931=
NM_001282678.1:c.2340G= (PEX1)	NP_001269607.1:p.Leu780=
XM_005250433.3:c.1215G= (PEX1)	XP_005250490.1:p.Leu405=
XR_242246.3:n.3060G= (PEX1)
XM_017012319.2:c.1215G= (PEX1)	XP_016867808.1:p.Leu405=
XR_001744808.2:n.1991G= (PEX1)
XR_001744843.2:n.5328C= (GATAD1)
XR_242246.5:n.3011G= (PEX1)
XR_927494.3:n.4179C= (GATAD1)
XR_927503.3:n.4110C= (GATAD1)
NM_000466.3:c.2964G= (PEX1) MANE Select	NP_000457.1:p.Leu988=
NM_001282677.2:c.2793G= (PEX1)	NP_001269606.1:p.Leu931=
NM_001282678.2:c.2340G= (PEX1)	NP_001269607.1:p.Leu780=