Canonical Allele Identifier: CA1725947441

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517513C= , CM000669.2:g.92517513C=	GRCh38
NC_000007.13:g.92146827C= , CM000669.1:g.92146827C=	GRCh37
NC_000007.12:g.91984763C=	NCBI36
NG_008341.1:g.16019G=
NG_008341.2:g.16019G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1002G= MANE Select	ENSP00000248633.4:p.Lys334=
ENST00000248633.8:c.1002G=	ENSP00000248633.4:p.Lys334=
ENST00000428214.5:c.1002G=	ENSP00000394413.1:p.Lys334=
ENST00000438045.5:c.274-3546G=	ENSP00000410438.1:n.274-3546G=
ENST00000484913.5:n.1041G=
NM_000466.2:c.1002G=	NP_000457.1:p.Lys334=
NM_001282677.1:c.1002G=	NP_001269606.1:p.Lys334=
NM_001282678.1:c.378G=	NP_001269607.1:p.Lys126=
XR_242246.3:n.1098G=
XM_017012319.2:c.-665G=	XP_016867808.1:n.-665G=
XR_001744808.2:n.112G=
XR_242246.5:n.1049G=
NM_000466.3:c.1002G= MANE Select	NP_000457.1:p.Lys334=
NM_001282677.2:c.1002G=	NP_001269606.1:p.Lys334=
NM_001282678.2:c.378G=	NP_001269607.1:p.Lys126=