Canonical Allele Identifier: CA1725942112

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92507047T= , CM000669.2:g.92507047T=	GRCh38
NC_000007.13:g.92136361T= , CM000669.1:g.92136361T=	GRCh37
NC_000007.12:g.91974297T=	NCBI36
NG_008341.1:g.26485A=
NG_008341.2:g.26485A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1750A= MANE Select	ENSP00000248633.4:p.Met584=
ENST00000248633.8:c.1750A=	ENSP00000248633.4:p.Met584=
ENST00000422866.1:c.568A=
ENST00000428214.5:c.1750A=	ENSP00000394413.1:p.Met584=
ENST00000438045.5:c.784A=	ENSP00000410438.1:p.Met262=
ENST00000484913.5:n.1789A=
ENST00000496420.5:n.777A=
NM_000466.2:c.1750A=	NP_000457.1:p.Met584=
NM_001282677.1:c.1750A=	NP_001269606.1:p.Met584=
NM_001282678.1:c.1126A=	NP_001269607.1:p.Met376=
XM_005250433.3:c.1A=	XP_005250490.1:p.Met1=
XR_242246.3:n.1846A=
XM_017012319.2:c.1A=	XP_016867808.1:p.Met1=
XR_001744808.2:n.777A=
XR_242246.5:n.1797A=
NM_000466.3:c.1750A= MANE Select	NP_000457.1:p.Met584=
NM_001282677.2:c.1750A=	NP_001269606.1:p.Met584=
NM_001282678.2:c.1126A=	NP_001269607.1:p.Met376=