Canonical Allele Identifier: CA1725935159

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499727T= , CM000669.2:g.92499727T=	GRCh38
NC_000007.13:g.92129041T= , CM000669.1:g.92129041T=	GRCh37
NC_000007.12:g.91966977T=	NCBI36
NG_008341.1:g.33805A=
NG_008341.2:g.33805A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2695A= MANE Select	ENSP00000248633.4:p.Arg899=
ENST00000248633.8:c.2695A=	ENSP00000248633.4:p.Arg899=
ENST00000428214.5:c.2524A=	ENSP00000394413.1:p.Arg842=
ENST00000438045.5:c.1729A=	ENSP00000410438.1:p.Arg577=
ENST00000484913.5:n.2734A=
ENST00000496420.5:n.2587A=
NM_000466.2:c.2695A=	NP_000457.1:p.Arg899=
NM_001282677.1:c.2524A=	NP_001269606.1:p.Arg842=
NM_001282678.1:c.2071A=	NP_001269607.1:p.Arg691=
XM_005250433.3:c.946A=	XP_005250490.1:p.Arg316=
XR_242246.3:n.2791A=
XM_017012319.2:c.946A=	XP_016867808.1:p.Arg316=
XR_001744808.2:n.1722A=
XR_242246.5:n.2742A=
NM_000466.3:c.2695A= MANE Select	NP_000457.1:p.Arg899=
NM_001282677.2:c.2524A=	NP_001269606.1:p.Arg842=
NM_001282678.2:c.2071A=	NP_001269607.1:p.Arg691=