Canonical Allele Identifier: CA1725942025

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92507007A= , CM000669.2:g.92507007A=	GRCh38
NC_000007.13:g.92136321A= , CM000669.1:g.92136321A=	GRCh37
NC_000007.12:g.91974257A=	NCBI36
NG_008341.1:g.26525T=
NG_008341.2:g.26525T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1790T= MANE Select	ENSP00000248633.4:p.Leu597=
ENST00000248633.8:c.1790T=	ENSP00000248633.4:p.Leu597=
ENST00000422866.1:c.608T=
ENST00000428214.5:c.1790T=	ENSP00000394413.1:p.Leu597=
ENST00000438045.5:c.824T=	ENSP00000410438.1:p.Leu275=
ENST00000484913.5:n.1829T=
ENST00000496420.5:n.817T=
NM_000466.2:c.1790T=	NP_000457.1:p.Leu597=
NM_001282677.1:c.1790T=	NP_001269606.1:p.Leu597=
NM_001282678.1:c.1166T=	NP_001269607.1:p.Leu389=
XM_005250433.3:c.41T=	XP_005250490.1:p.Leu14=
XR_242246.3:n.1886T=
XM_017012319.2:c.41T=	XP_016867808.1:p.Leu14=
XR_001744808.2:n.817T=
XR_242246.5:n.1837T=
NM_000466.3:c.1790T= MANE Select	NP_000457.1:p.Leu597=
NM_001282677.2:c.1790T=	NP_001269606.1:p.Leu597=
NM_001282678.2:c.1166T=	NP_001269607.1:p.Leu389=