Canonical Allele Identifier: CA1725941080

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506263A= , CM000669.2:g.92506263A=	GRCh38
NC_000007.13:g.92135577A= , CM000669.1:g.92135577A=	GRCh37
NC_000007.12:g.91973513A=	NCBI36
NG_008341.1:g.27269T=
NG_008341.2:g.27269T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1885T= MANE Select	ENSP00000248633.4:p.Cys629=
ENST00000248633.8:c.1885T=	ENSP00000248633.4:p.Cys629=
ENST00000422866.1:c.703T=
ENST00000428214.5:c.1885T=	ENSP00000394413.1:p.Cys629=
ENST00000438045.5:c.919T=	ENSP00000410438.1:p.Cys307=
ENST00000484913.5:n.1924T=
ENST00000496420.5:n.1561T=
NM_000466.2:c.1885T=	NP_000457.1:p.Cys629=
NM_001282677.1:c.1885T=	NP_001269606.1:p.Cys629=
NM_001282678.1:c.1261T=	NP_001269607.1:p.Cys421=
XM_005250433.3:c.136T=	XP_005250490.1:p.Cys46=
XR_242246.3:n.1981T=
XM_017012319.2:c.136T=	XP_016867808.1:p.Cys46=
XR_001744808.2:n.912T=
XR_242246.5:n.1932T=
NM_000466.3:c.1885T= MANE Select	NP_000457.1:p.Cys629=
NM_001282677.2:c.1885T=	NP_001269606.1:p.Cys629=
NM_001282678.2:c.1261T=	NP_001269607.1:p.Cys421=