Canonical Allele Identifier: CA1725938996

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504845C= , CM000669.2:g.92504845C=	GRCh38
NC_000007.13:g.92134159C= , CM000669.1:g.92134159C=	GRCh37
NC_000007.12:g.91972095C=	NCBI36
NG_008341.1:g.28687G=
NG_008341.2:g.28687G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1958G= MANE Select	ENSP00000248633.4:p.Trp653=
ENST00000248633.8:c.1958G=	ENSP00000248633.4:p.Trp653=
ENST00000428214.5:c.1900+1403G=	ENSP00000394413.1:n.1900+1403G=
ENST00000438045.5:c.992G=	ENSP00000410438.1:p.Trp331=
ENST00000484913.5:n.1997G=
ENST00000496420.5:n.1634G=
NM_000466.2:c.1958G=	NP_000457.1:p.Trp653=
NM_001282677.1:c.1900+1403G=	NP_001269606.1:n.1900+1403G=
NM_001282678.1:c.1334G=	NP_001269607.1:p.Trp445=
XM_005250433.3:c.209G=	XP_005250490.1:p.Trp70=
XR_242246.3:n.2054G=
XM_017012319.2:c.209G=	XP_016867808.1:p.Trp70=
XR_001744808.2:n.985G=
XR_242246.5:n.2005G=
NM_000466.3:c.1958G= MANE Select	NP_000457.1:p.Trp653=
NM_001282677.2:c.1900+1403G=	NP_001269606.1:n.1900+1403G=
NM_001282678.2:c.1334G=	NP_001269607.1:p.Trp445=