Canonical Allele Identifier: CA1725938790

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504762C= , CM000669.2:g.92504762C=	GRCh38
NC_000007.13:g.92134076C= , CM000669.1:g.92134076C=	GRCh37
NC_000007.12:g.91972012C=	NCBI36
NG_008341.1:g.28770G=
NG_008341.2:g.28770G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2041G= MANE Select	ENSP00000248633.4:p.Asp681=
ENST00000248633.8:c.2041G=	ENSP00000248633.4:p.Asp681=
ENST00000428214.5:c.1900+1486G=	ENSP00000394413.1:n.1900+1486G=
ENST00000438045.5:c.1075G=	ENSP00000410438.1:p.Asp359=
ENST00000484913.5:n.2080G=
ENST00000496420.5:n.1717G=
NM_000466.2:c.2041G=	NP_000457.1:p.Asp681=
NM_001282677.1:c.1900+1486G=	NP_001269606.1:n.1900+1486G=
NM_001282678.1:c.1417G=	NP_001269607.1:p.Asp473=
XM_005250433.3:c.292G=	XP_005250490.1:p.Asp98=
XR_242246.3:n.2137G=
XM_017012319.2:c.292G=	XP_016867808.1:p.Asp98=
XR_001744808.2:n.1068G=
XR_242246.5:n.2088G=
NM_000466.3:c.2041G= MANE Select	NP_000457.1:p.Asp681=
NM_001282677.2:c.1900+1486G=	NP_001269606.1:n.1900+1486G=
NM_001282678.2:c.1417G=	NP_001269607.1:p.Asp473=