Canonical Allele Identifier: CA1725941197

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506308T= , CM000669.2:g.92506308T=	GRCh38
NC_000007.13:g.92135622T= , CM000669.1:g.92135622T=	GRCh37
NC_000007.12:g.91973558T=	NCBI36
NG_008341.1:g.27224A=
NG_008341.2:g.27224A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1840A= MANE Select	ENSP00000248633.4:p.Lys614=
ENST00000248633.8:c.1840A=	ENSP00000248633.4:p.Lys614=
ENST00000422866.1:c.658A=
ENST00000428214.5:c.1840A=	ENSP00000394413.1:p.Lys614=
ENST00000438045.5:c.874A=	ENSP00000410438.1:p.Lys292=
ENST00000484913.5:n.1879A=
ENST00000496420.5:n.1516A=
NM_000466.2:c.1840A=	NP_000457.1:p.Lys614=
NM_001282677.1:c.1840A=	NP_001269606.1:p.Lys614=
NM_001282678.1:c.1216A=	NP_001269607.1:p.Lys406=
XM_005250433.3:c.91A=	XP_005250490.1:p.Lys31=
XR_242246.3:n.1936A=
XM_017012319.2:c.91A=	XP_016867808.1:p.Lys31=
XR_001744808.2:n.867A=
XR_242246.5:n.1887A=
NM_000466.3:c.1840A= MANE Select	NP_000457.1:p.Lys614=
NM_001282677.2:c.1840A=	NP_001269606.1:p.Lys614=
NM_001282678.2:c.1216A=	NP_001269607.1:p.Lys406=