Canonical Allele Identifier: CA1725947628

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517634G= , CM000669.2:g.92517634G=	GRCh38
NC_000007.13:g.92146948G= , CM000669.1:g.92146948G=	GRCh37
NC_000007.12:g.91984884G=	NCBI36
NG_008341.1:g.15898C=
NG_008341.2:g.15898C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.881C= MANE Select	ENSP00000248633.4:p.Pro294=
ENST00000248633.8:c.881C=	ENSP00000248633.4:p.Pro294=
ENST00000428214.5:c.881C=	ENSP00000394413.1:p.Pro294=
ENST00000438045.5:c.274-3667C=	ENSP00000410438.1:n.274-3667C=
ENST00000484913.5:n.920C=
NM_000466.2:c.881C=	NP_000457.1:p.Pro294=
NM_001282677.1:c.881C=	NP_001269606.1:p.Pro294=
NM_001282678.1:c.257C=	NP_001269607.1:p.Pro86=
XR_242246.3:n.977C=
XR_242246.5:n.928C=
NM_000466.3:c.881C= MANE Select	NP_000457.1:p.Pro294=
NM_001282677.2:c.881C=	NP_001269606.1:p.Pro294=
NM_001282678.2:c.257C=	NP_001269607.1:p.Pro86=