Canonical Allele Identifier: CA1725936074

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501894T= , CM000669.2:g.92501894T=	GRCh38
NC_000007.13:g.92131208T= , CM000669.1:g.92131208T=	GRCh37
NC_000007.12:g.91969144T=	NCBI36
NG_008341.1:g.31638A=
NG_008341.2:g.31638A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2412A= MANE Select	ENSP00000248633.4:p.Arg804=
ENST00000248633.8:c.2412A=	ENSP00000248633.4:p.Arg804=
ENST00000428214.5:c.2241A=	ENSP00000394413.1:p.Arg747=
ENST00000438045.5:c.1446A=	ENSP00000410438.1:p.Arg482=
ENST00000484913.5:n.2451A=
ENST00000496092.1:n.210A=
ENST00000496420.5:n.2088A=
NM_000466.2:c.2412A=	NP_000457.1:p.Arg804=
NM_001282677.1:c.2241A=	NP_001269606.1:p.Arg747=
NM_001282678.1:c.1788A=	NP_001269607.1:p.Arg596=
XM_005250433.3:c.663A=	XP_005250490.1:p.Arg221=
XR_242246.3:n.2508A=
XM_017012319.2:c.663A=	XP_016867808.1:p.Arg221=
XR_001744808.2:n.1439A=
XR_242246.5:n.2459A=
NM_000466.3:c.2412A= MANE Select	NP_000457.1:p.Arg804=
NM_001282677.2:c.2241A=	NP_001269606.1:p.Arg747=
NM_001282678.2:c.1788A=	NP_001269607.1:p.Arg596=