Canonical Allele Identifier: CA1725937001

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92503091G= , CM000669.2:g.92503091G=	GRCh38
NC_000007.13:g.92132405G= , CM000669.1:g.92132405G=	GRCh37
NC_000007.12:g.91970341G=	NCBI36
NG_008341.1:g.30441C=
NG_008341.2:g.30441C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2176C= MANE Select	ENSP00000248633.4:p.Gln726=
ENST00000248633.8:c.2176C=	ENSP00000248633.4:p.Gln726=
ENST00000428214.5:c.2005C=	ENSP00000394413.1:p.Gln669=
ENST00000438045.5:c.1210C=	ENSP00000410438.1:p.Gln404=
ENST00000484913.5:n.2215C=
ENST00000496420.5:n.1852C=
NM_000466.2:c.2176C=	NP_000457.1:p.Gln726=
NM_001282677.1:c.2005C=	NP_001269606.1:p.Gln669=
NM_001282678.1:c.1552C=	NP_001269607.1:p.Gln518=
XM_005250433.3:c.427C=	XP_005250490.1:p.Gln143=
XR_242246.3:n.2272C=
XM_017012319.2:c.427C=	XP_016867808.1:p.Gln143=
XR_001744808.2:n.1203C=
XR_242246.5:n.2223C=
NM_000466.3:c.2176C= MANE Select	NP_000457.1:p.Gln726=
NM_001282677.2:c.2005C=	NP_001269606.1:p.Gln669=
NM_001282678.2:c.1552C=	NP_001269607.1:p.Gln518=