Canonical Allele Identifier: CA1725928559

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491474A= , CM000669.2:g.92491474A=	GRCh38
NC_000007.13:g.92120788A= , CM000669.1:g.92120788A=	GRCh37
NC_000007.12:g.91958724A=	NCBI36
NG_008341.1:g.42058T=
NG_008341.2:g.42058T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3236T= (PEX1) MANE Select	ENSP00000248633.4:p.Leu1079=
ENST00000248633.8:c.3236T= (PEX1)	ENSP00000248633.4:p.Leu1079=
ENST00000428214.5:c.3065T= (PEX1)	ENSP00000394413.1:p.Leu1022=
ENST00000438045.5:c.2270T= (PEX1)	ENSP00000410438.1:p.Leu757=
ENST00000484913.5:n.3275T= (PEX1)
ENST00000496420.5:n.4291T= (PEX1)
NM_000466.2:c.3236T= (PEX1)	NP_000457.1:p.Leu1079=
NM_001282677.1:c.3065T= (PEX1)	NP_001269606.1:p.Leu1022=
NM_001282678.1:c.2612T= (PEX1)	NP_001269607.1:p.Leu871=
XM_005250433.3:c.1487T= (PEX1)	XP_005250490.1:p.Leu496=
XR_242246.3:n.3332T= (PEX1)
XM_017012319.2:c.1487T= (PEX1)	XP_016867808.1:p.Leu496=
XR_001744808.2:n.2263T= (PEX1)
XR_001744842.2:n.2512A= (GATAD1)
XR_001744843.2:n.2443A= (GATAD1)
XR_002956472.1:n.2569A= (GATAD1)
XR_002956473.1:n.2600A= (GATAD1)
XR_002956474.1:n.2517A= (GATAD1)
XR_242246.5:n.3283T= (PEX1)
XR_927494.3:n.1294A= (GATAD1)
XR_927500.3:n.1291A= (GATAD1)
XR_927503.3:n.1225A= (GATAD1)
NM_000466.3:c.3236T= (PEX1) MANE Select	NP_000457.1:p.Leu1079=
NM_001282677.2:c.3065T= (PEX1)	NP_001269606.1:p.Leu1022=
NM_001282678.2:c.2612T= (PEX1)	NP_001269607.1:p.Leu871=