Canonical Allele Identifier: CA1725937979

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92511025A= , CM000669.2:g.92511025A=	GRCh38
NC_000007.13:g.92140339A= , CM000669.1:g.92140339A=	GRCh37
NC_000007.12:g.91978275A=	NCBI36
NG_008341.1:g.22507T=
NG_008341.2:g.22507T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1506T= MANE Select	ENSP00000248633.4:p.Ser502=
ENST00000248633.8:c.1506T=	ENSP00000248633.4:p.Ser502=
ENST00000422866.1:c.407T=
ENST00000428214.5:c.1506T=	ENSP00000394413.1:p.Ser502=
ENST00000438045.5:c.540T=	ENSP00000410438.1:p.Ser180=
ENST00000476923.1:n.267T=
ENST00000484913.5:n.1545T=
NM_000466.2:c.1506T=	NP_000457.1:p.Ser502=
NM_001282677.1:c.1506T=	NP_001269606.1:p.Ser502=
NM_001282678.1:c.882T=	NP_001269607.1:p.Ser294=
XM_005250433.3:c.-161T=	XP_005250490.1:n.-161T=
XR_242246.3:n.1602T=
XM_017012319.2:c.-161T=	XP_016867808.1:n.-161T=
XR_001744808.2:n.616T=
XR_242246.5:n.1553T=
NM_000466.3:c.1506T= MANE Select	NP_000457.1:p.Ser502=
NM_001282677.2:c.1506T=	NP_001269606.1:p.Ser502=
NM_001282678.2:c.882T=	NP_001269607.1:p.Ser294=