Canonical Allele Identifier: CA1725938766

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504755A= , CM000669.2:g.92504755A=	GRCh38
NC_000007.13:g.92134069A= , CM000669.1:g.92134069A=	GRCh37
NC_000007.12:g.91972005A=	NCBI36
NG_008341.1:g.28777T=
NG_008341.2:g.28777T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2048T= MANE Select	ENSP00000248633.4:p.Val683=
ENST00000248633.8:c.2048T=	ENSP00000248633.4:p.Val683=
ENST00000428214.5:c.1900+1493T=	ENSP00000394413.1:n.1900+1493T=
ENST00000438045.5:c.1082T=	ENSP00000410438.1:p.Val361=
ENST00000484913.5:n.2087T=
ENST00000496420.5:n.1724T=
NM_000466.2:c.2048T=	NP_000457.1:p.Val683=
NM_001282677.1:c.1900+1493T=	NP_001269606.1:n.1900+1493T=
NM_001282678.1:c.1424T=	NP_001269607.1:p.Val475=
XM_005250433.3:c.299T=	XP_005250490.1:p.Val100=
XR_242246.3:n.2144T=
XM_017012319.2:c.299T=	XP_016867808.1:p.Val100=
XR_001744808.2:n.1075T=
XR_242246.5:n.2095T=
NM_000466.3:c.2048T= MANE Select	NP_000457.1:p.Val683=
NM_001282677.2:c.1900+1493T=	NP_001269606.1:n.1900+1493T=
NM_001282678.2:c.1424T=	NP_001269607.1:p.Val475=