Canonical Allele Identifier: CA1725947923

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517817G= , CM000669.2:g.92517817G=	GRCh38
NC_000007.13:g.92147131G= , CM000669.1:g.92147131G=	GRCh37
NC_000007.12:g.91985067G=	NCBI36
NG_008341.1:g.15715C=
NG_008341.2:g.15715C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.698C= MANE Select	ENSP00000248633.4:p.Ser233=
ENST00000248633.8:c.698C=	ENSP00000248633.4:p.Ser233=
ENST00000428214.5:c.698C=	ENSP00000394413.1:p.Ser233=
ENST00000438045.5:c.274-3850C=	ENSP00000410438.1:n.274-3850C=
ENST00000484913.5:n.737C=
NM_000466.2:c.698C=	NP_000457.1:p.Ser233=
NM_001282677.1:c.698C=	NP_001269606.1:p.Ser233=
NM_001282678.1:c.74C=	NP_001269607.1:p.Ser25=
XR_242246.3:n.794C=
XR_242246.5:n.745C=
NM_000466.3:c.698C= MANE Select	NP_000457.1:p.Ser233=
NM_001282677.2:c.698C=	NP_001269606.1:p.Ser233=
NM_001282678.2:c.74C=	NP_001269607.1:p.Ser25=