Canonical Allele Identifier: CA1725936078

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501903T= , CM000669.2:g.92501903T=	GRCh38
NC_000007.13:g.92131217T= , CM000669.1:g.92131217T=	GRCh37
NC_000007.12:g.91969153T=	NCBI36
NG_008341.1:g.31629A=
NG_008341.2:g.31629A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2403A= MANE Select	ENSP00000248633.4:p.Ile801=
ENST00000248633.8:c.2403A=	ENSP00000248633.4:p.Ile801=
ENST00000428214.5:c.2232A=	ENSP00000394413.1:p.Ile744=
ENST00000438045.5:c.1437A=	ENSP00000410438.1:p.Ile479=
ENST00000484913.5:n.2442A=
ENST00000496092.1:n.201A=
ENST00000496420.5:n.2079A=
NM_000466.2:c.2403A=	NP_000457.1:p.Ile801=
NM_001282677.1:c.2232A=	NP_001269606.1:p.Ile744=
NM_001282678.1:c.1779A=	NP_001269607.1:p.Ile593=
XM_005250433.3:c.654A=	XP_005250490.1:p.Ile218=
XR_242246.3:n.2499A=
XM_017012319.2:c.654A=	XP_016867808.1:p.Ile218=
XR_001744808.2:n.1430A=
XR_242246.5:n.2450A=
NM_000466.3:c.2403A= MANE Select	NP_000457.1:p.Ile801=
NM_001282677.2:c.2232A=	NP_001269606.1:p.Ile744=
NM_001282678.2:c.1779A=	NP_001269607.1:p.Ile593=