Canonical Allele Identifier: CA1725948022

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517868T= , CM000669.2:g.92517868T=	GRCh38
NC_000007.13:g.92147182T= , CM000669.1:g.92147182T=	GRCh37
NC_000007.12:g.91985118T=	NCBI36
NG_008341.1:g.15664A=
NG_008341.2:g.15664A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.647A= MANE Select	ENSP00000248633.4:p.Lys216=
ENST00000248633.8:c.647A=	ENSP00000248633.4:p.Lys216=
ENST00000428214.5:c.647A=	ENSP00000394413.1:p.Lys216=
ENST00000438045.5:c.274-3901A=	ENSP00000410438.1:n.274-3901A=
ENST00000484913.5:n.686A=
NM_000466.2:c.647A=	NP_000457.1:p.Lys216=
NM_001282677.1:c.647A=	NP_001269606.1:p.Lys216=
NM_001282678.1:c.23A=	NP_001269607.1:p.Lys8=
XR_242246.3:n.743A=
XR_242246.5:n.694A=
NM_000466.3:c.647A= MANE Select	NP_000457.1:p.Lys216=
NM_001282677.2:c.647A=	NP_001269606.1:p.Lys216=
NM_001282678.2:c.23A=	NP_001269607.1:p.Lys8=