Canonical Allele Identifier: CA1725935165

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499745C= , CM000669.2:g.92499745C=	GRCh38
NC_000007.13:g.92129059C= , CM000669.1:g.92129059C=	GRCh37
NC_000007.12:g.91966995C=	NCBI36
NG_008341.1:g.33787G=
NG_008341.2:g.33787G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2677G= MANE Select	ENSP00000248633.4:p.Val893=
ENST00000248633.8:c.2677G=	ENSP00000248633.4:p.Val893=
ENST00000428214.5:c.2506G=	ENSP00000394413.1:p.Val836=
ENST00000438045.5:c.1711G=	ENSP00000410438.1:p.Val571=
ENST00000484913.5:n.2716G=
ENST00000496420.5:n.2569G=
NM_000466.2:c.2677G=	NP_000457.1:p.Val893=
NM_001282677.1:c.2506G=	NP_001269606.1:p.Val836=
NM_001282678.1:c.2053G=	NP_001269607.1:p.Val685=
XM_005250433.3:c.928G=	XP_005250490.1:p.Val310=
XR_242246.3:n.2773G=
XM_017012319.2:c.928G=	XP_016867808.1:p.Val310=
XR_001744808.2:n.1704G=
XR_242246.5:n.2724G=
NM_000466.3:c.2677G= MANE Select	NP_000457.1:p.Val893=
NM_001282677.2:c.2506G=	NP_001269606.1:p.Val836=
NM_001282678.2:c.2053G=	NP_001269607.1:p.Val685=