Canonical Allele Identifier: CA1725931412

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494514G= , CM000669.2:g.92494514G=	GRCh38
NC_000007.13:g.92123828G= , CM000669.1:g.92123828G=	GRCh37
NC_000007.12:g.91961764G=	NCBI36
NG_008341.1:g.39018C=
NG_008341.2:g.39018C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2899C= (PEX1) MANE Select	ENSP00000248633.4:p.Gln967=
ENST00000248633.8:c.2899C= (PEX1)	ENSP00000248633.4:p.Gln967=
ENST00000428214.5:c.2728C= (PEX1)	ENSP00000394413.1:p.Gln910=
ENST00000438045.5:c.1933C= (PEX1)	ENSP00000410438.1:p.Gln645=
ENST00000484913.5:n.2938C= (PEX1)
ENST00000496420.5:n.2791C= (PEX1)
NM_000466.2:c.2899C= (PEX1)	NP_000457.1:p.Gln967=
NM_001282677.1:c.2728C= (PEX1)	NP_001269606.1:p.Gln910=
NM_001282678.1:c.2275C= (PEX1)	NP_001269607.1:p.Gln759=
XM_005250433.3:c.1150C= (PEX1)	XP_005250490.1:p.Gln384=
XR_242246.3:n.2995C= (PEX1)
XM_017012319.2:c.1150C= (PEX1)	XP_016867808.1:p.Gln384=
XR_001744808.2:n.1926C= (PEX1)
XR_001744843.2:n.5483G= (GATAD1)
XR_242246.5:n.2946C= (PEX1)
XR_927494.3:n.4334G= (GATAD1)
XR_927503.3:n.4265G= (GATAD1)
NM_000466.3:c.2899C= (PEX1) MANE Select	NP_000457.1:p.Gln967=
NM_001282677.2:c.2728C= (PEX1)	NP_001269606.1:p.Gln910=
NM_001282678.2:c.2275C= (PEX1)	NP_001269607.1:p.Gln759=