Canonical Allele Identifier: CA1725936130

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502020G= , CM000669.2:g.92502020G=	GRCh38
NC_000007.13:g.92131334G= , CM000669.1:g.92131334G=	GRCh37
NC_000007.12:g.91969270G=	NCBI36
NG_008341.1:g.31512C=
NG_008341.2:g.31512C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2286C= MANE Select	ENSP00000248633.4:p.Asn762=
ENST00000248633.8:c.2286C=	ENSP00000248633.4:p.Asn762=
ENST00000428214.5:c.2115C=	ENSP00000394413.1:p.Asn705=
ENST00000438045.5:c.1320C=	ENSP00000410438.1:p.Asn440=
ENST00000484913.5:n.2325C=
ENST00000496092.1:n.84C=
ENST00000496420.5:n.1962C=
NM_000466.2:c.2286C=	NP_000457.1:p.Asn762=
NM_001282677.1:c.2115C=	NP_001269606.1:p.Asn705=
NM_001282678.1:c.1662C=	NP_001269607.1:p.Asn554=
XM_005250433.3:c.537C=	XP_005250490.1:p.Asn179=
XR_242246.3:n.2382C=
XM_017012319.2:c.537C=	XP_016867808.1:p.Asn179=
XR_001744808.2:n.1313C=
XR_242246.5:n.2333C=
NM_000466.3:c.2286C= MANE Select	NP_000457.1:p.Asn762=
NM_001282677.2:c.2115C=	NP_001269606.1:p.Asn705=
NM_001282678.2:c.1662C=	NP_001269607.1:p.Asn554=