Canonical Allele Identifier: CA1725947607

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517621A= , CM000669.2:g.92517621A=	GRCh38
NC_000007.13:g.92146935A= , CM000669.1:g.92146935A=	GRCh37
NC_000007.12:g.91984871A=	NCBI36
NG_008341.1:g.15911T=
NG_008341.2:g.15911T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.894T= MANE Select	ENSP00000248633.4:p.Tyr298=
ENST00000248633.8:c.894T=	ENSP00000248633.4:p.Tyr298=
ENST00000428214.5:c.894T=	ENSP00000394413.1:p.Tyr298=
ENST00000438045.5:c.274-3654T=	ENSP00000410438.1:n.274-3654T=
ENST00000484913.5:n.933T=
NM_000466.2:c.894T=	NP_000457.1:p.Tyr298=
NM_001282677.1:c.894T=	NP_001269606.1:p.Tyr298=
NM_001282678.1:c.270T=	NP_001269607.1:p.Tyr90=
XR_242246.3:n.990T=
XM_017012319.2:c.-773T=	XP_016867808.1:n.-773T=
XR_001744808.2:n.4T=
XR_242246.5:n.941T=
NM_000466.3:c.894T= MANE Select	NP_000457.1:p.Tyr298=
NM_001282677.2:c.894T=	NP_001269606.1:p.Tyr298=
NM_001282678.2:c.270T=	NP_001269607.1:p.Tyr90=