Canonical Allele Identifier: CA1725937830

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92510962C= , CM000669.2:g.92510962C=	GRCh38
NC_000007.13:g.92140276C= , CM000669.1:g.92140276C=	GRCh37
NC_000007.12:g.91978212C=	NCBI36
NG_008341.1:g.22570G=
NG_008341.2:g.22570G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1569G= MANE Select	ENSP00000248633.4:p.Leu523=
ENST00000248633.8:c.1569G=	ENSP00000248633.4:p.Leu523=
ENST00000422866.1:c.470G=
ENST00000428214.5:c.1569G=	ENSP00000394413.1:p.Leu523=
ENST00000438045.5:c.603G=	ENSP00000410438.1:p.Leu201=
ENST00000476923.1:n.330G=
ENST00000484913.5:n.1608G=
NM_000466.2:c.1569G=	NP_000457.1:p.Leu523=
NM_001282677.1:c.1569G=	NP_001269606.1:p.Leu523=
NM_001282678.1:c.945G=	NP_001269607.1:p.Leu315=
XM_005250433.3:c.-98G=	XP_005250490.1:n.-98G=
XR_242246.3:n.1665G=
XM_017012319.2:c.-98G=	XP_016867808.1:n.-98G=
XR_001744808.2:n.679G=
XR_242246.5:n.1616G=
NM_000466.3:c.1569G= MANE Select	NP_000457.1:p.Leu523=
NM_001282677.2:c.1569G=	NP_001269606.1:p.Leu523=
NM_001282678.2:c.945G=	NP_001269607.1:p.Leu315=