Canonical Allele Identifier: CA1725947223

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517383C= , CM000669.2:g.92517383C=	GRCh38
NC_000007.13:g.92146697C= , CM000669.1:g.92146697C=	GRCh37
NC_000007.12:g.91984633C=	NCBI36
NG_008341.1:g.16149G=
NG_008341.2:g.16149G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1132G= MANE Select	ENSP00000248633.4:p.Asp378=
ENST00000248633.8:c.1132G=	ENSP00000248633.4:p.Asp378=
ENST00000422866.1:c.33G=
ENST00000428214.5:c.1132G=	ENSP00000394413.1:p.Asp378=
ENST00000438045.5:c.274-3416G=	ENSP00000410438.1:n.274-3416G=
ENST00000484913.5:n.1171G=
NM_000466.2:c.1132G=	NP_000457.1:p.Asp378=
NM_001282677.1:c.1132G=	NP_001269606.1:p.Asp378=
NM_001282678.1:c.508G=	NP_001269607.1:p.Asp170=
XR_242246.3:n.1228G=
XM_017012319.2:c.-535G=	XP_016867808.1:n.-535G=
XR_001744808.2:n.242G=
XR_242246.5:n.1179G=
NM_000466.3:c.1132G= MANE Select	NP_000457.1:p.Asp378=
NM_001282677.2:c.1132G=	NP_001269606.1:p.Asp378=
NM_001282678.2:c.508G=	NP_001269607.1:p.Asp170=