Canonical Allele Identifier: CA1725937845

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92510969T= , CM000669.2:g.92510969T=	GRCh38
NC_000007.13:g.92140283T= , CM000669.1:g.92140283T=	GRCh37
NC_000007.12:g.91978219T=	NCBI36
NG_008341.1:g.22563A=
NG_008341.2:g.22563A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1562A= MANE Select	ENSP00000248633.4:p.Asn521=
ENST00000248633.8:c.1562A=	ENSP00000248633.4:p.Asn521=
ENST00000422866.1:c.463A=
ENST00000428214.5:c.1562A=	ENSP00000394413.1:p.Asn521=
ENST00000438045.5:c.596A=	ENSP00000410438.1:p.Asn199=
ENST00000476923.1:n.323A=
ENST00000484913.5:n.1601A=
NM_000466.2:c.1562A=	NP_000457.1:p.Asn521=
NM_001282677.1:c.1562A=	NP_001269606.1:p.Asn521=
NM_001282678.1:c.938A=	NP_001269607.1:p.Asn313=
XM_005250433.3:c.-105A=	XP_005250490.1:n.-105A=
XR_242246.3:n.1658A=
XM_017012319.2:c.-105A=	XP_016867808.1:n.-105A=
XR_001744808.2:n.672A=
XR_242246.5:n.1609A=
NM_000466.3:c.1562A= MANE Select	NP_000457.1:p.Asn521=
NM_001282677.2:c.1562A=	NP_001269606.1:p.Asn521=
NM_001282678.2:c.938A=	NP_001269607.1:p.Asn313=