Canonical Allele Identifier: CA1725941246

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506335T= , CM000669.2:g.92506335T=	GRCh38
NC_000007.13:g.92135649T= , CM000669.1:g.92135649T=	GRCh37
NC_000007.12:g.91973585T=	NCBI36
NG_008341.1:g.27197A=
NG_008341.2:g.27197A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1813A= MANE Select	ENSP00000248633.4:p.Lys605=
ENST00000248633.8:c.1813A=	ENSP00000248633.4:p.Lys605=
ENST00000422866.1:c.631A=
ENST00000428214.5:c.1813A=	ENSP00000394413.1:p.Lys605=
ENST00000438045.5:c.847A=	ENSP00000410438.1:p.Lys283=
ENST00000484913.5:n.1852A=
ENST00000496420.5:n.1489A=
NM_000466.2:c.1813A=	NP_000457.1:p.Lys605=
NM_001282677.1:c.1813A=	NP_001269606.1:p.Lys605=
NM_001282678.1:c.1189A=	NP_001269607.1:p.Lys397=
XM_005250433.3:c.64A=	XP_005250490.1:p.Lys22=
XR_242246.3:n.1909A=
XM_017012319.2:c.64A=	XP_016867808.1:p.Lys22=
XR_001744808.2:n.840A=
XR_242246.5:n.1860A=
NM_000466.3:c.1813A= MANE Select	NP_000457.1:p.Lys605=
NM_001282677.2:c.1813A=	NP_001269606.1:p.Lys605=
NM_001282678.2:c.1189A=	NP_001269607.1:p.Lys397=