Canonical Allele Identifier: CA1725948007

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517867C= , CM000669.2:g.92517867C=	GRCh38
NC_000007.13:g.92147181C= , CM000669.1:g.92147181C=	GRCh37
NC_000007.12:g.91985117C=	NCBI36
NG_008341.1:g.15665G=
NG_008341.2:g.15665G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.648G= MANE Select	ENSP00000248633.4:p.Lys216=
ENST00000248633.8:c.648G=	ENSP00000248633.4:p.Lys216=
ENST00000428214.5:c.648G=	ENSP00000394413.1:p.Lys216=
ENST00000438045.5:c.274-3900G=	ENSP00000410438.1:n.274-3900G=
ENST00000484913.5:n.687G=
NM_000466.2:c.648G=	NP_000457.1:p.Lys216=
NM_001282677.1:c.648G=	NP_001269606.1:p.Lys216=
NM_001282678.1:c.24G=	NP_001269607.1:p.Lys8=
XR_242246.3:n.744G=
XR_242246.5:n.695G=
NM_000466.3:c.648G= MANE Select	NP_000457.1:p.Lys216=
NM_001282677.2:c.648G=	NP_001269606.1:p.Lys216=
NM_001282678.2:c.24G=	NP_001269607.1:p.Lys8=