Canonical Allele Identifier: CA1725951652

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92522140G= , CM000669.2:g.92522140G=	GRCh38
NC_000007.13:g.92151454G= , CM000669.1:g.92151454G=	GRCh37
NC_000007.12:g.91989390G=	NCBI36
NG_008341.1:g.11392C=
NG_008341.2:g.11392C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.235C= MANE Select	ENSP00000248633.4:p.Gln79=
ENST00000248633.8:c.235C=	ENSP00000248633.4:p.Gln79=
ENST00000428214.5:c.235C=	ENSP00000394413.1:p.Gln79=
ENST00000438045.5:c.235C=	ENSP00000410438.1:p.Gln79=
ENST00000484913.5:n.239C=
NM_000466.2:c.235C=	NP_000457.1:p.Gln79=
NM_001282677.1:c.235C=	NP_001269606.1:p.Gln79=
NM_001282678.1:c.-425C=	NP_001269607.1:n.-425C=
XR_242246.3:n.331C=
XR_242246.5:n.282C=
NM_000466.3:c.235C= MANE Select	NP_000457.1:p.Gln79=
NM_001282677.2:c.235C=	NP_001269606.1:p.Gln79=
NM_001282678.2:c.-425C=	NP_001269607.1:n.-425C=