Canonical Allele Identifier: CA1725949324

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92519043A= , CM000669.2:g.92519043A=	GRCh38
NC_000007.13:g.92148357A= , CM000669.1:g.92148357A=	GRCh37
NC_000007.12:g.91986293A=	NCBI36
NG_008341.1:g.14489T=
NG_008341.2:g.14489T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.309T= MANE Select	ENSP00000248633.4:p.Cys103=
ENST00000248633.8:c.309T=	ENSP00000248633.4:p.Cys103=
ENST00000428214.5:c.309T=	ENSP00000394413.1:p.Cys103=
ENST00000438045.5:c.273+3059T=	ENSP00000410438.1:n.273+3059T=
ENST00000484913.5:n.313T=
NM_000466.2:c.309T=	NP_000457.1:p.Cys103=
NM_001282677.1:c.309T=	NP_001269606.1:p.Cys103=
NM_001282678.1:c.-351T=	NP_001269607.1:n.-351T=
XR_242246.3:n.405T=
XR_242246.5:n.356T=
NM_000466.3:c.309T= MANE Select	NP_000457.1:p.Cys103=
NM_001282677.2:c.309T=	NP_001269606.1:p.Cys103=
NM_001282678.2:c.-351T=	NP_001269607.1:n.-351T=