Canonical Allele Identifier: CA1725933330

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496732C= , CM000669.2:g.92496732C=	GRCh38
NC_000007.13:g.92126046C= , CM000669.1:g.92126046C=	GRCh37
NC_000007.12:g.91963982C=	NCBI36
NG_008341.1:g.36800G=
NG_008341.2:g.36800G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2764G= MANE Select	ENSP00000248633.4:p.Val922=
ENST00000248633.8:c.2764G=	ENSP00000248633.4:p.Val922=
ENST00000428214.5:c.2593G=	ENSP00000394413.1:p.Val865=
ENST00000438045.5:c.1798G=	ENSP00000410438.1:p.Val600=
ENST00000484913.5:n.2803G=
ENST00000496420.5:n.2656G=
NM_000466.2:c.2764G=	NP_000457.1:p.Val922=
NM_001282677.1:c.2593G=	NP_001269606.1:p.Val865=
NM_001282678.1:c.2140G=	NP_001269607.1:p.Val714=
XM_005250433.3:c.1015G=	XP_005250490.1:p.Val339=
XR_242246.3:n.2860G=
XM_017012319.2:c.1015G=	XP_016867808.1:p.Val339=
XR_001744808.2:n.1791G=
XR_242246.5:n.2811G=
NM_000466.3:c.2764G= MANE Select	NP_000457.1:p.Val922=
NM_001282677.2:c.2593G=	NP_001269606.1:p.Val865=
NM_001282678.2:c.2140G=	NP_001269607.1:p.Val714=