Canonical Allele Identifier: CA1725938759

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504754C= , CM000669.2:g.92504754C=	GRCh38
NC_000007.13:g.92134068C= , CM000669.1:g.92134068C=	GRCh37
NC_000007.12:g.91972004C=	NCBI36
NG_008341.1:g.28778G=
NG_008341.2:g.28778G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2049G= MANE Select	ENSP00000248633.4:p.Val683=
ENST00000248633.8:c.2049G=	ENSP00000248633.4:p.Val683=
ENST00000428214.5:c.1900+1494G=	ENSP00000394413.1:n.1900+1494G=
ENST00000438045.5:c.1083G=	ENSP00000410438.1:p.Val361=
ENST00000484913.5:n.2088G=
ENST00000496420.5:n.1725G=
NM_000466.2:c.2049G=	NP_000457.1:p.Val683=
NM_001282677.1:c.1900+1494G=	NP_001269606.1:n.1900+1494G=
NM_001282678.1:c.1425G=	NP_001269607.1:p.Val475=
XM_005250433.3:c.300G=	XP_005250490.1:p.Val100=
XR_242246.3:n.2145G=
XM_017012319.2:c.300G=	XP_016867808.1:p.Val100=
XR_001744808.2:n.1076G=
XR_242246.5:n.2096G=
NM_000466.3:c.2049G= MANE Select	NP_000457.1:p.Val683=
NM_001282677.2:c.1900+1494G=	NP_001269606.1:n.1900+1494G=
NM_001282678.2:c.1425G=	NP_001269607.1:p.Val475=