Canonical Allele Identifier: CA1725935160

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499728A= , CM000669.2:g.92499728A=	GRCh38
NC_000007.13:g.92129042A= , CM000669.1:g.92129042A=	GRCh37
NC_000007.12:g.91966978A=	NCBI36
NG_008341.1:g.33804T=
NG_008341.2:g.33804T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2694T= MANE Select	ENSP00000248633.4:p.Ser898=
ENST00000248633.8:c.2694T=	ENSP00000248633.4:p.Ser898=
ENST00000428214.5:c.2523T=	ENSP00000394413.1:p.Ser841=
ENST00000438045.5:c.1728T=	ENSP00000410438.1:p.Ser576=
ENST00000484913.5:n.2733T=
ENST00000496420.5:n.2586T=
NM_000466.2:c.2694T=	NP_000457.1:p.Ser898=
NM_001282677.1:c.2523T=	NP_001269606.1:p.Ser841=
NM_001282678.1:c.2070T=	NP_001269607.1:p.Ser690=
XM_005250433.3:c.945T=	XP_005250490.1:p.Ser315=
XR_242246.3:n.2790T=
XM_017012319.2:c.945T=	XP_016867808.1:p.Ser315=
XR_001744808.2:n.1721T=
XR_242246.5:n.2741T=
NM_000466.3:c.2694T= MANE Select	NP_000457.1:p.Ser898=
NM_001282677.2:c.2523T=	NP_001269606.1:p.Ser841=
NM_001282678.2:c.2070T=	NP_001269607.1:p.Ser690=