Canonical Allele Identifier: CA1725937841

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92510965C= , CM000669.2:g.92510965C=	GRCh38
NC_000007.13:g.92140279C= , CM000669.1:g.92140279C=	GRCh37
NC_000007.12:g.91978215C=	NCBI36
NG_008341.1:g.22567G=
NG_008341.2:g.22567G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1566G= MANE Select	ENSP00000248633.4:p.Leu522=
ENST00000248633.8:c.1566G=	ENSP00000248633.4:p.Leu522=
ENST00000422866.1:c.467G=
ENST00000428214.5:c.1566G=	ENSP00000394413.1:p.Leu522=
ENST00000438045.5:c.600G=	ENSP00000410438.1:p.Leu200=
ENST00000476923.1:n.327G=
ENST00000484913.5:n.1605G=
NM_000466.2:c.1566G=	NP_000457.1:p.Leu522=
NM_001282677.1:c.1566G=	NP_001269606.1:p.Leu522=
NM_001282678.1:c.942G=	NP_001269607.1:p.Leu314=
XM_005250433.3:c.-101G=	XP_005250490.1:n.-101G=
XR_242246.3:n.1662G=
XM_017012319.2:c.-101G=	XP_016867808.1:n.-101G=
XR_001744808.2:n.676G=
XR_242246.5:n.1613G=
NM_000466.3:c.1566G= MANE Select	NP_000457.1:p.Leu522=
NM_001282677.2:c.1566G=	NP_001269606.1:p.Leu522=
NM_001282678.2:c.942G=	NP_001269607.1:p.Leu314=