Canonical Allele Identifier: CA1725951697

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92522252A= , CM000669.2:g.92522252A=	GRCh38
NC_000007.13:g.92151566A= , CM000669.1:g.92151566A=	GRCh37
NC_000007.12:g.91989502A=	NCBI36
NG_008341.1:g.11280T=
NG_008341.2:g.11280T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.130-7T= MANE Select	ENSP00000248633.4:n.130-7T=
ENST00000248633.8:c.130-7T=	ENSP00000248633.4:n.130-7T=
ENST00000428214.5:c.130-7T=	ENSP00000394413.1:n.130-7T=
ENST00000438045.5:c.130-7T=	ENSP00000410438.1:n.130-7T=
ENST00000484913.5:n.134-7T=
NM_000466.2:c.130-7T=	NP_000457.1:n.130-7T=
NM_001282677.1:c.130-7T=	NP_001269606.1:n.130-7T=
NM_001282678.1:c.-530-7T=	NP_001269607.1:n.-530-7T=
XR_242246.3:n.226-7T=
XR_242246.5:n.177-7T=
NM_000466.3:c.130-7T= MANE Select	NP_000457.1:n.130-7T=
NM_001282677.2:c.130-7T=	NP_001269606.1:n.130-7T=
NM_001282678.2:c.-530-7T=	NP_001269607.1:n.-530-7T=