Canonical Allele Identifier: CA1725938933

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504823C= , CM000669.2:g.92504823C=	GRCh38
NC_000007.13:g.92134137C= , CM000669.1:g.92134137C=	GRCh37
NC_000007.12:g.91972073C=	NCBI36
NG_008341.1:g.28709G=
NG_008341.2:g.28709G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1980G= MANE Select	ENSP00000248633.4:p.Leu660=
ENST00000248633.8:c.1980G=	ENSP00000248633.4:p.Leu660=
ENST00000428214.5:c.1900+1425G=	ENSP00000394413.1:n.1900+1425G=
ENST00000438045.5:c.1014G=	ENSP00000410438.1:p.Leu338=
ENST00000484913.5:n.2019G=
ENST00000496420.5:n.1656G=
NM_000466.2:c.1980G=	NP_000457.1:p.Leu660=
NM_001282677.1:c.1900+1425G=	NP_001269606.1:n.1900+1425G=
NM_001282678.1:c.1356G=	NP_001269607.1:p.Leu452=
XM_005250433.3:c.231G=	XP_005250490.1:p.Leu77=
XR_242246.3:n.2076G=
XM_017012319.2:c.231G=	XP_016867808.1:p.Leu77=
XR_001744808.2:n.1007G=
XR_242246.5:n.2027G=
NM_000466.3:c.1980G= MANE Select	NP_000457.1:p.Leu660=
NM_001282677.2:c.1900+1425G=	NP_001269606.1:n.1900+1425G=
NM_001282678.2:c.1356G=	NP_001269607.1:p.Leu452=