Canonical Allele Identifier: CA1725937004

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92503092A= , CM000669.2:g.92503092A=	GRCh38
NC_000007.13:g.92132406A= , CM000669.1:g.92132406A=	GRCh37
NC_000007.12:g.91970342A=	NCBI36
NG_008341.1:g.30440T=
NG_008341.2:g.30440T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2175T= MANE Select	ENSP00000248633.4:p.Ala725=
ENST00000248633.8:c.2175T=	ENSP00000248633.4:p.Ala725=
ENST00000428214.5:c.2004T=	ENSP00000394413.1:p.Ala668=
ENST00000438045.5:c.1209T=	ENSP00000410438.1:p.Ala403=
ENST00000484913.5:n.2214T=
ENST00000496420.5:n.1851T=
NM_000466.2:c.2175T=	NP_000457.1:p.Ala725=
NM_001282677.1:c.2004T=	NP_001269606.1:p.Ala668=
NM_001282678.1:c.1551T=	NP_001269607.1:p.Ala517=
XM_005250433.3:c.426T=	XP_005250490.1:p.Ala142=
XR_242246.3:n.2271T=
XM_017012319.2:c.426T=	XP_016867808.1:p.Ala142=
XR_001744808.2:n.1202T=
XR_242246.5:n.2222T=
NM_000466.3:c.2175T= MANE Select	NP_000457.1:p.Ala725=
NM_001282677.2:c.2004T=	NP_001269606.1:p.Ala668=
NM_001282678.2:c.1551T=	NP_001269607.1:p.Ala517=