Canonical Allele Identifier: CA1725936991

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92503080G= , CM000669.2:g.92503080G=	GRCh38
NC_000007.13:g.92132394G= , CM000669.1:g.92132394G=	GRCh37
NC_000007.12:g.91970330G=	NCBI36
NG_008341.1:g.30452C=
NG_008341.2:g.30452C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2187C= MANE Select	ENSP00000248633.4:p.His729=
ENST00000248633.8:c.2187C=	ENSP00000248633.4:p.His729=
ENST00000428214.5:c.2016C=	ENSP00000394413.1:p.His672=
ENST00000438045.5:c.1221C=	ENSP00000410438.1:p.His407=
ENST00000484913.5:n.2226C=
ENST00000496420.5:n.1863C=
NM_000466.2:c.2187C=	NP_000457.1:p.His729=
NM_001282677.1:c.2016C=	NP_001269606.1:p.His672=
NM_001282678.1:c.1563C=	NP_001269607.1:p.His521=
XM_005250433.3:c.438C=	XP_005250490.1:p.His146=
XR_242246.3:n.2283C=
XM_017012319.2:c.438C=	XP_016867808.1:p.His146=
XR_001744808.2:n.1214C=
XR_242246.5:n.2234C=
NM_000466.3:c.2187C= MANE Select	NP_000457.1:p.His729=
NM_001282677.2:c.2016C=	NP_001269606.1:p.His672=
NM_001282678.2:c.1563C=	NP_001269607.1:p.His521=