Canonical Allele Identifier: CA1725936994

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92503082G= , CM000669.2:g.92503082G=	GRCh38
NC_000007.13:g.92132396G= , CM000669.1:g.92132396G=	GRCh37
NC_000007.12:g.91970332G=	NCBI36
NG_008341.1:g.30450C=
NG_008341.2:g.30450C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2185C= MANE Select	ENSP00000248633.4:p.His729=
ENST00000248633.8:c.2185C=	ENSP00000248633.4:p.His729=
ENST00000428214.5:c.2014C=	ENSP00000394413.1:p.His672=
ENST00000438045.5:c.1219C=	ENSP00000410438.1:p.His407=
ENST00000484913.5:n.2224C=
ENST00000496420.5:n.1861C=
NM_000466.2:c.2185C=	NP_000457.1:p.His729=
NM_001282677.1:c.2014C=	NP_001269606.1:p.His672=
NM_001282678.1:c.1561C=	NP_001269607.1:p.His521=
XM_005250433.3:c.436C=	XP_005250490.1:p.His146=
XR_242246.3:n.2281C=
XM_017012319.2:c.436C=	XP_016867808.1:p.His146=
XR_001744808.2:n.1212C=
XR_242246.5:n.2232C=
NM_000466.3:c.2185C= MANE Select	NP_000457.1:p.His729=
NM_001282677.2:c.2014C=	NP_001269606.1:p.His672=
NM_001282678.2:c.1561C=	NP_001269607.1:p.His521=