Canonical Allele Identifier: CA1725938486

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504560C= , CM000669.2:g.92504560C=	GRCh38
NC_000007.13:g.92133874C= , CM000669.1:g.92133874C=	GRCh37
NC_000007.12:g.91971810C=	NCBI36
NG_008341.1:g.28972G=
NG_008341.2:g.28972G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2071+172G= MANE Select	ENSP00000248633.4:n.2071+172G=
ENST00000248633.8:c.2071+172G=	ENSP00000248633.4:n.2071+172G=
ENST00000428214.5:c.1901-1365G=	ENSP00000394413.1:n.1901-1365G=
ENST00000438045.5:c.1105+172G=	ENSP00000410438.1:n.1105+172G=
ENST00000484913.5:n.2110+172G=
ENST00000496420.5:n.1747+172G=
NM_000466.2:c.2071+172G=	NP_000457.1:n.2071+172G=
NM_001282677.1:c.1901-1365G=	NP_001269606.1:n.1901-1365G=
NM_001282678.1:c.1447+172G=	NP_001269607.1:n.1447+172G=
XM_005250433.3:c.322+172G=	XP_005250490.1:n.322+172G=
XR_242246.3:n.2167+172G=
XM_017012319.2:c.322+172G=	XP_016867808.1:n.322+172G=
XR_001744808.2:n.1098+172G=
XR_242246.5:n.2118+172G=
NM_000466.3:c.2071+172G= MANE Select	NP_000457.1:n.2071+172G=
NM_001282677.2:c.1901-1365G=	NP_001269606.1:n.1901-1365G=
NM_001282678.2:c.1447+172G=	NP_001269607.1:n.1447+172G=