Canonical Allele Identifier: CA1725938823

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504777G= , CM000669.2:g.92504777G=	GRCh38
NC_000007.13:g.92134091G= , CM000669.1:g.92134091G=	GRCh37
NC_000007.12:g.91972027G=	NCBI36
NG_008341.1:g.28755C=
NG_008341.2:g.28755C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2026C= MANE Select	ENSP00000248633.4:p.His676=
ENST00000248633.8:c.2026C=	ENSP00000248633.4:p.His676=
ENST00000428214.5:c.1900+1471C=	ENSP00000394413.1:n.1900+1471C=
ENST00000438045.5:c.1060C=	ENSP00000410438.1:p.His354=
ENST00000484913.5:n.2065C=
ENST00000496420.5:n.1702C=
NM_000466.2:c.2026C=	NP_000457.1:p.His676=
NM_001282677.1:c.1900+1471C=	NP_001269606.1:n.1900+1471C=
NM_001282678.1:c.1402C=	NP_001269607.1:p.His468=
XM_005250433.3:c.277C=	XP_005250490.1:p.His93=
XR_242246.3:n.2122C=
XM_017012319.2:c.277C=	XP_016867808.1:p.His93=
XR_001744808.2:n.1053C=
XR_242246.5:n.2073C=
NM_000466.3:c.2026C= MANE Select	NP_000457.1:p.His676=
NM_001282677.2:c.1900+1471C=	NP_001269606.1:n.1900+1471C=
NM_001282678.2:c.1402C=	NP_001269607.1:p.His468=