Canonical Allele Identifier: CA1725948249

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517991A= , CM000669.2:g.92517991A=	GRCh38
NC_000007.13:g.92147305A= , CM000669.1:g.92147305A=	GRCh37
NC_000007.12:g.91985241A=	NCBI36
NG_008341.1:g.15541T=
NG_008341.2:g.15541T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.524T= MANE Select	ENSP00000248633.4:p.Leu175=
ENST00000248633.8:c.524T=	ENSP00000248633.4:p.Leu175=
ENST00000428214.5:c.524T=	ENSP00000394413.1:p.Leu175=
ENST00000438045.5:c.274-4024T=	ENSP00000410438.1:n.274-4024T=
ENST00000484913.5:n.563T=
NM_000466.2:c.524T=	NP_000457.1:p.Leu175=
NM_001282677.1:c.524T=	NP_001269606.1:p.Leu175=
NM_001282678.1:c.-101T=	NP_001269607.1:n.-101T=
XR_242246.3:n.620T=
XR_242246.5:n.571T=
NM_000466.3:c.524T= MANE Select	NP_000457.1:p.Leu175=
NM_001282677.2:c.524T=	NP_001269606.1:p.Leu175=
NM_001282678.2:c.-101T=	NP_001269607.1:n.-101T=