Canonical Allele Identifier: CA1725935186

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499790G= , CM000669.2:g.92499790G=	GRCh38
NC_000007.13:g.92129104G= , CM000669.1:g.92129104G=	GRCh37
NC_000007.12:g.91967040G=	NCBI36
NG_008341.1:g.33742C=
NG_008341.2:g.33742C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2632C= MANE Select	ENSP00000248633.4:p.Leu878=
ENST00000248633.8:c.2632C=	ENSP00000248633.4:p.Leu878=
ENST00000428214.5:c.2461C=	ENSP00000394413.1:p.Leu821=
ENST00000438045.5:c.1666C=	ENSP00000410438.1:p.Leu556=
ENST00000484913.5:n.2671C=
ENST00000496420.5:n.2524C=
NM_000466.2:c.2632C=	NP_000457.1:p.Leu878=
NM_001282677.1:c.2461C=	NP_001269606.1:p.Leu821=
NM_001282678.1:c.2008C=	NP_001269607.1:p.Leu670=
XM_005250433.3:c.883C=	XP_005250490.1:p.Leu295=
XR_242246.3:n.2728C=
XM_017012319.2:c.883C=	XP_016867808.1:p.Leu295=
XR_001744808.2:n.1659C=
XR_242246.5:n.2679C=
NM_000466.3:c.2632C= MANE Select	NP_000457.1:p.Leu878=
NM_001282677.2:c.2461C=	NP_001269606.1:p.Leu821=
NM_001282678.2:c.2008C=	NP_001269607.1:p.Leu670=