Canonical Allele Identifier: CA1725947470

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517537G= , CM000669.2:g.92517537G=	GRCh38
NC_000007.13:g.92146851G= , CM000669.1:g.92146851G=	GRCh37
NC_000007.12:g.91984787G=	NCBI36
NG_008341.1:g.15995C=
NG_008341.2:g.15995C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.978C= MANE Select	ENSP00000248633.4:p.Pro326=
ENST00000248633.8:c.978C=	ENSP00000248633.4:p.Pro326=
ENST00000428214.5:c.978C=	ENSP00000394413.1:p.Pro326=
ENST00000438045.5:c.274-3570C=	ENSP00000410438.1:n.274-3570C=
ENST00000484913.5:n.1017C=
NM_000466.2:c.978C=	NP_000457.1:p.Pro326=
NM_001282677.1:c.978C=	NP_001269606.1:p.Pro326=
NM_001282678.1:c.354C=	NP_001269607.1:p.Pro118=
XR_242246.3:n.1074C=
XM_017012319.2:c.-689C=	XP_016867808.1:n.-689C=
XR_001744808.2:n.88C=
XR_242246.5:n.1025C=
NM_000466.3:c.978C= MANE Select	NP_000457.1:p.Pro326=
NM_001282677.2:c.978C=	NP_001269606.1:p.Pro326=
NM_001282678.2:c.354C=	NP_001269607.1:p.Pro118=