Canonical Allele Identifier: CA1725936087

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501922C= , CM000669.2:g.92501922C=	GRCh38
NC_000007.13:g.92131236C= , CM000669.1:g.92131236C=	GRCh37
NC_000007.12:g.91969172C=	NCBI36
NG_008341.1:g.31610G=
NG_008341.2:g.31610G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2384G= MANE Select	ENSP00000248633.4:p.Arg795=
ENST00000248633.8:c.2384G=	ENSP00000248633.4:p.Arg795=
ENST00000428214.5:c.2213G=	ENSP00000394413.1:p.Arg738=
ENST00000438045.5:c.1418G=	ENSP00000410438.1:p.Arg473=
ENST00000484913.5:n.2423G=
ENST00000496092.1:n.182G=
ENST00000496420.5:n.2060G=
NM_000466.2:c.2384G=	NP_000457.1:p.Arg795=
NM_001282677.1:c.2213G=	NP_001269606.1:p.Arg738=
NM_001282678.1:c.1760G=	NP_001269607.1:p.Arg587=
XM_005250433.3:c.635G=	XP_005250490.1:p.Arg212=
XR_242246.3:n.2480G=
XM_017012319.2:c.635G=	XP_016867808.1:p.Arg212=
XR_001744808.2:n.1411G=
XR_242246.5:n.2431G=
NM_000466.3:c.2384G= MANE Select	NP_000457.1:p.Arg795=
NM_001282677.2:c.2213G=	NP_001269606.1:p.Arg738=
NM_001282678.2:c.1760G=	NP_001269607.1:p.Arg587=