Canonical Allele Identifier: CA1725949363

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92519063A= , CM000669.2:g.92519063A=	GRCh38
NC_000007.13:g.92148377A= , CM000669.1:g.92148377A=	GRCh37
NC_000007.12:g.91986313A=	NCBI36
NG_008341.1:g.14469T=
NG_008341.2:g.14469T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.289T= MANE Select	ENSP00000248633.4:p.Cys97=
ENST00000248633.8:c.289T=	ENSP00000248633.4:p.Cys97=
ENST00000428214.5:c.289T=	ENSP00000394413.1:p.Cys97=
ENST00000438045.5:c.273+3039T=	ENSP00000410438.1:n.273+3039T=
ENST00000484913.5:n.293T=
NM_000466.2:c.289T=	NP_000457.1:p.Cys97=
NM_001282677.1:c.289T=	NP_001269606.1:p.Cys97=
NM_001282678.1:c.-371T=	NP_001269607.1:n.-371T=
XR_242246.3:n.385T=
XR_242246.5:n.336T=
NM_000466.3:c.289T= MANE Select	NP_000457.1:p.Cys97=
NM_001282677.2:c.289T=	NP_001269606.1:p.Cys97=
NM_001282678.2:c.-371T=	NP_001269607.1:n.-371T=