Canonical Allele Identifier: CA1725938808

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504770T= , CM000669.2:g.92504770T=	GRCh38
NC_000007.13:g.92134084T= , CM000669.1:g.92134084T=	GRCh37
NC_000007.12:g.91972020T=	NCBI36
NG_008341.1:g.28762A=
NG_008341.2:g.28762A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2033A= MANE Select	ENSP00000248633.4:p.His678=
ENST00000248633.8:c.2033A=	ENSP00000248633.4:p.His678=
ENST00000428214.5:c.1900+1478A=	ENSP00000394413.1:n.1900+1478A=
ENST00000438045.5:c.1067A=	ENSP00000410438.1:p.His356=
ENST00000484913.5:n.2072A=
ENST00000496420.5:n.1709A=
NM_000466.2:c.2033A=	NP_000457.1:p.His678=
NM_001282677.1:c.1900+1478A=	NP_001269606.1:n.1900+1478A=
NM_001282678.1:c.1409A=	NP_001269607.1:p.His470=
XM_005250433.3:c.284A=	XP_005250490.1:p.His95=
XR_242246.3:n.2129A=
XM_017012319.2:c.284A=	XP_016867808.1:p.His95=
XR_001744808.2:n.1060A=
XR_242246.5:n.2080A=
NM_000466.3:c.2033A= MANE Select	NP_000457.1:p.His678=
NM_001282677.2:c.1900+1478A=	NP_001269606.1:n.1900+1478A=
NM_001282678.2:c.1409A=	NP_001269607.1:p.His470=