Canonical Allele Identifier: CA1725947674

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517667A= , CM000669.2:g.92517667A=	GRCh38
NC_000007.13:g.92146981A= , CM000669.1:g.92146981A=	GRCh37
NC_000007.12:g.91984917A=	NCBI36
NG_008341.1:g.15865T=
NG_008341.2:g.15865T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.848T= MANE Select	ENSP00000248633.4:p.Leu283=
ENST00000248633.8:c.848T=	ENSP00000248633.4:p.Leu283=
ENST00000428214.5:c.848T=	ENSP00000394413.1:p.Leu283=
ENST00000438045.5:c.274-3700T=	ENSP00000410438.1:n.274-3700T=
ENST00000484913.5:n.887T=
NM_000466.2:c.848T=	NP_000457.1:p.Leu283=
NM_001282677.1:c.848T=	NP_001269606.1:p.Leu283=
NM_001282678.1:c.224T=	NP_001269607.1:p.Leu75=
XR_242246.3:n.944T=
XR_242246.5:n.895T=
NM_000466.3:c.848T= MANE Select	NP_000457.1:p.Leu283=
NM_001282677.2:c.848T=	NP_001269606.1:p.Leu283=
NM_001282678.2:c.224T=	NP_001269607.1:p.Leu75=