Canonical Allele Identifier: CA1725949440

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92519124G= , CM000669.2:g.92519124G=	GRCh38
NC_000007.13:g.92148438G= , CM000669.1:g.92148438G=	GRCh37
NC_000007.12:g.91986374G=	NCBI36
NG_008341.1:g.14408C=
NG_008341.2:g.14408C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.274-46C= MANE Select	ENSP00000248633.4:n.274-46C=
ENST00000248633.8:c.274-46C=	ENSP00000248633.4:n.274-46C=
ENST00000428214.5:c.274-46C=	ENSP00000394413.1:n.274-46C=
ENST00000438045.5:c.273+2978C=	ENSP00000410438.1:n.273+2978C=
ENST00000484913.5:n.278-46C=
NM_000466.2:c.274-46C=	NP_000457.1:n.274-46C=
NM_001282677.1:c.274-46C=	NP_001269606.1:n.274-46C=
NM_001282678.1:c.-386-46C=	NP_001269607.1:n.-386-46C=
XR_242246.3:n.370-46C=
XR_242246.5:n.321-46C=
NM_000466.3:c.274-46C= MANE Select	NP_000457.1:n.274-46C=
NM_001282677.2:c.274-46C=	NP_001269606.1:n.274-46C=
NM_001282678.2:c.-386-46C=	NP_001269607.1:n.-386-46C=