Canonical Allele Identifier: CA1725951670

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92522202A= , CM000669.2:g.92522202A=	GRCh38
NC_000007.13:g.92151516A= , CM000669.1:g.92151516A=	GRCh37
NC_000007.12:g.91989452A=	NCBI36
NG_008341.1:g.11330T=
NG_008341.2:g.11330T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.173T= MANE Select	ENSP00000248633.4:p.Leu58=
ENST00000248633.8:c.173T=	ENSP00000248633.4:p.Leu58=
ENST00000428214.5:c.173T=	ENSP00000394413.1:p.Leu58=
ENST00000438045.5:c.173T=	ENSP00000410438.1:p.Leu58=
ENST00000484913.5:n.177T=
NM_000466.2:c.173T=	NP_000457.1:p.Leu58=
NM_001282677.1:c.173T=	NP_001269606.1:p.Leu58=
NM_001282678.1:c.-487T=	NP_001269607.1:n.-487T=
XR_242246.3:n.269T=
XR_242246.5:n.220T=
NM_000466.3:c.173T= MANE Select	NP_000457.1:p.Leu58=
NM_001282677.2:c.173T=	NP_001269606.1:p.Leu58=
NM_001282678.2:c.-487T=	NP_001269607.1:n.-487T=