Canonical Allele Identifier: CA1725936988

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92503079T= , CM000669.2:g.92503079T=	GRCh38
NC_000007.13:g.92132393T= , CM000669.1:g.92132393T=	GRCh37
NC_000007.12:g.91970329T=	NCBI36
NG_008341.1:g.30453A=
NG_008341.2:g.30453A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2188A= MANE Select	ENSP00000248633.4:p.Ile730=
ENST00000248633.8:c.2188A=	ENSP00000248633.4:p.Ile730=
ENST00000428214.5:c.2017A=	ENSP00000394413.1:p.Ile673=
ENST00000438045.5:c.1222A=	ENSP00000410438.1:p.Ile408=
ENST00000484913.5:n.2227A=
ENST00000496420.5:n.1864A=
NM_000466.2:c.2188A=	NP_000457.1:p.Ile730=
NM_001282677.1:c.2017A=	NP_001269606.1:p.Ile673=
NM_001282678.1:c.1564A=	NP_001269607.1:p.Ile522=
XM_005250433.3:c.439A=	XP_005250490.1:p.Ile147=
XR_242246.3:n.2284A=
XM_017012319.2:c.439A=	XP_016867808.1:p.Ile147=
XR_001744808.2:n.1215A=
XR_242246.5:n.2235A=
NM_000466.3:c.2188A= MANE Select	NP_000457.1:p.Ile730=
NM_001282677.2:c.2017A=	NP_001269606.1:p.Ile673=
NM_001282678.2:c.1564A=	NP_001269607.1:p.Ile522=