Canonical Allele Identifier: CA1725947600

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517619T= , CM000669.2:g.92517619T=	GRCh38
NC_000007.13:g.92146933T= , CM000669.1:g.92146933T=	GRCh37
NC_000007.12:g.91984869T=	NCBI36
NG_008341.1:g.15913A=
NG_008341.2:g.15913A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.896A= MANE Select	ENSP00000248633.4:p.Asn299=
ENST00000248633.8:c.896A=	ENSP00000248633.4:p.Asn299=
ENST00000428214.5:c.896A=	ENSP00000394413.1:p.Asn299=
ENST00000438045.5:c.274-3652A=	ENSP00000410438.1:n.274-3652A=
ENST00000484913.5:n.935A=
NM_000466.2:c.896A=	NP_000457.1:p.Asn299=
NM_001282677.1:c.896A=	NP_001269606.1:p.Asn299=
NM_001282678.1:c.272A=	NP_001269607.1:p.Asn91=
XR_242246.3:n.992A=
XM_017012319.2:c.-771A=	XP_016867808.1:n.-771A=
XR_001744808.2:n.6A=
XR_242246.5:n.943A=
NM_000466.3:c.896A= MANE Select	NP_000457.1:p.Asn299=
NM_001282677.2:c.896A=	NP_001269606.1:p.Asn299=
NM_001282678.2:c.272A=	NP_001269607.1:p.Asn91=