Canonical Allele Identifier: CA1725937183

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92503191C= , CM000669.2:g.92503191C=	GRCh38
NC_000007.13:g.92132505C= , CM000669.1:g.92132505C=	GRCh37
NC_000007.12:g.91970441C=	NCBI36
NG_008341.1:g.30341G=
NG_008341.2:g.30341G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2076G= MANE Select	ENSP00000248633.4:p.Leu692=
ENST00000248633.8:c.2076G=	ENSP00000248633.4:p.Leu692=
ENST00000428214.5:c.1905G=	ENSP00000394413.1:p.Leu635=
ENST00000438045.5:c.1110G=	ENSP00000410438.1:p.Leu370=
ENST00000484913.5:n.2115G=
ENST00000496420.5:n.1752G=
NM_000466.2:c.2076G=	NP_000457.1:p.Leu692=
NM_001282677.1:c.1905G=	NP_001269606.1:p.Leu635=
NM_001282678.1:c.1452G=	NP_001269607.1:p.Leu484=
XM_005250433.3:c.327G=	XP_005250490.1:p.Leu109=
XR_242246.3:n.2172G=
XM_017012319.2:c.327G=	XP_016867808.1:p.Leu109=
XR_001744808.2:n.1103G=
XR_242246.5:n.2123G=
NM_000466.3:c.2076G= MANE Select	NP_000457.1:p.Leu692=
NM_001282677.2:c.1905G=	NP_001269606.1:p.Leu635=
NM_001282678.2:c.1452G=	NP_001269607.1:p.Leu484=