Canonical Allele Identifier: CA1725948228

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517983G= , CM000669.2:g.92517983G=	GRCh38
NC_000007.13:g.92147297G= , CM000669.1:g.92147297G=	GRCh37
NC_000007.12:g.91985233G=	NCBI36
NG_008341.1:g.15549C=
NG_008341.2:g.15549C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.532C= MANE Select	ENSP00000248633.4:p.Gln178=
ENST00000248633.8:c.532C=	ENSP00000248633.4:p.Gln178=
ENST00000428214.5:c.532C=	ENSP00000394413.1:p.Gln178=
ENST00000438045.5:c.274-4016C=	ENSP00000410438.1:n.274-4016C=
ENST00000484913.5:n.571C=
NM_000466.2:c.532C=	NP_000457.1:p.Gln178=
NM_001282677.1:c.532C=	NP_001269606.1:p.Gln178=
NM_001282678.1:c.-93C=	NP_001269607.1:n.-93C=
XR_242246.3:n.628C=
XR_242246.5:n.579C=
NM_000466.3:c.532C= MANE Select	NP_000457.1:p.Gln178=
NM_001282677.2:c.532C=	NP_001269606.1:p.Gln178=
NM_001282678.2:c.-93C=	NP_001269607.1:n.-93C=