Canonical Allele Identifier: CA1725939147

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504886G= , CM000669.2:g.92504886G=	GRCh38
NC_000007.13:g.92134200G= , CM000669.1:g.92134200G=	GRCh37
NC_000007.12:g.91972136G=	NCBI36
NG_008341.1:g.28646C=
NG_008341.2:g.28646C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1917C= MANE Select	ENSP00000248633.4:p.Asn639=
ENST00000248633.8:c.1917C=	ENSP00000248633.4:p.Asn639=
ENST00000428214.5:c.1900+1362C=	ENSP00000394413.1:n.1900+1362C=
ENST00000438045.5:c.951C=	ENSP00000410438.1:p.Asn317=
ENST00000484913.5:n.1956C=
ENST00000496420.5:n.1593C=
NM_000466.2:c.1917C=	NP_000457.1:p.Asn639=
NM_001282677.1:c.1900+1362C=	NP_001269606.1:n.1900+1362C=
NM_001282678.1:c.1293C=	NP_001269607.1:p.Asn431=
XM_005250433.3:c.168C=	XP_005250490.1:p.Asn56=
XR_242246.3:n.2013C=
XM_017012319.2:c.168C=	XP_016867808.1:p.Asn56=
XR_001744808.2:n.944C=
XR_242246.5:n.1964C=
NM_000466.3:c.1917C= MANE Select	NP_000457.1:p.Asn639=
NM_001282677.2:c.1900+1362C=	NP_001269606.1:n.1900+1362C=
NM_001282678.2:c.1293C=	NP_001269607.1:p.Asn431=