Canonical Allele Identifier: CA1725935097

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499585G= , CM000669.2:g.92499585G=	GRCh38
NC_000007.13:g.92128899G= , CM000669.1:g.92128899G=	GRCh37
NC_000007.12:g.91966835G=	NCBI36
NG_008341.1:g.33947C=
NG_008341.2:g.33947C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2718+119C= MANE Select	ENSP00000248633.4:n.2718+119C=
ENST00000248633.8:c.2718+119C=	ENSP00000248633.4:n.2718+119C=
ENST00000428214.5:c.2547+119C=	ENSP00000394413.1:n.2547+119C=
ENST00000438045.5:c.1752+119C=	ENSP00000410438.1:n.1752+119C=
ENST00000484913.5:n.2757+119C=
ENST00000496420.5:n.2610+119C=
NM_000466.2:c.2718+119C=	NP_000457.1:n.2718+119C=
NM_001282677.1:c.2547+119C=	NP_001269606.1:n.2547+119C=
NM_001282678.1:c.2094+119C=	NP_001269607.1:n.2094+119C=
XM_005250433.3:c.969+119C=	XP_005250490.1:n.969+119C=
XR_242246.3:n.2814+119C=
XM_017012319.2:c.969+119C=	XP_016867808.1:n.969+119C=
XR_001744808.2:n.1745+119C=
XR_242246.5:n.2765+119C=
NM_000466.3:c.2718+119C= MANE Select	NP_000457.1:n.2718+119C=
NM_001282677.2:c.2547+119C=	NP_001269606.1:n.2547+119C=
NM_001282678.2:c.2094+119C=	NP_001269607.1:n.2094+119C=