Canonical Allele Identifier: CA1725935183

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499786A= , CM000669.2:g.92499786A=	GRCh38
NC_000007.13:g.92129100A= , CM000669.1:g.92129100A=	GRCh37
NC_000007.12:g.91967036A=	NCBI36
NG_008341.1:g.33746T=
NG_008341.2:g.33746T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2636T= MANE Select	ENSP00000248633.4:p.Leu879=
ENST00000248633.8:c.2636T=	ENSP00000248633.4:p.Leu879=
ENST00000428214.5:c.2465T=	ENSP00000394413.1:p.Leu822=
ENST00000438045.5:c.1670T=	ENSP00000410438.1:p.Leu557=
ENST00000484913.5:n.2675T=
ENST00000496420.5:n.2528T=
NM_000466.2:c.2636T=	NP_000457.1:p.Leu879=
NM_001282677.1:c.2465T=	NP_001269606.1:p.Leu822=
NM_001282678.1:c.2012T=	NP_001269607.1:p.Leu671=
XM_005250433.3:c.887T=	XP_005250490.1:p.Leu296=
XR_242246.3:n.2732T=
XM_017012319.2:c.887T=	XP_016867808.1:p.Leu296=
XR_001744808.2:n.1663T=
XR_242246.5:n.2683T=
NM_000466.3:c.2636T= MANE Select	NP_000457.1:p.Leu879=
NM_001282677.2:c.2465T=	NP_001269606.1:p.Leu822=
NM_001282678.2:c.2012T=	NP_001269607.1:p.Leu671=