Canonical Allele Identifier: CA1725933429

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496776C= , CM000669.2:g.92496776C=	GRCh38
NC_000007.13:g.92126090C= , CM000669.1:g.92126090C=	GRCh37
NC_000007.12:g.91964026C=	NCBI36
NG_008341.1:g.36756G=
NG_008341.2:g.36756G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2720G= MANE Select	ENSP00000248633.4:p.Gly907=
ENST00000248633.8:c.2720G=	ENSP00000248633.4:p.Gly907=
ENST00000428214.5:c.2549G=	ENSP00000394413.1:p.Gly850=
ENST00000438045.5:c.1754G=	ENSP00000410438.1:p.Gly585=
ENST00000484913.5:n.2759G=
ENST00000496420.5:n.2612G=
NM_000466.2:c.2720G=	NP_000457.1:p.Gly907=
NM_001282677.1:c.2549G=	NP_001269606.1:p.Gly850=
NM_001282678.1:c.2096G=	NP_001269607.1:p.Gly699=
XM_005250433.3:c.971G=	XP_005250490.1:p.Gly324=
XR_242246.3:n.2816G=
XM_017012319.2:c.971G=	XP_016867808.1:p.Gly324=
XR_001744808.2:n.1747G=
XR_242246.5:n.2767G=
NM_000466.3:c.2720G= MANE Select	NP_000457.1:p.Gly907=
NM_001282677.2:c.2549G=	NP_001269606.1:p.Gly850=
NM_001282678.2:c.2096G=	NP_001269607.1:p.Gly699=