Canonical Allele Identifier: CA1725935155

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499712T= , CM000669.2:g.92499712T=	GRCh38
NC_000007.13:g.92129026T= , CM000669.1:g.92129026T=	GRCh37
NC_000007.12:g.91966962T=	NCBI36
NG_008341.1:g.33820A=
NG_008341.2:g.33820A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2710A= MANE Select	ENSP00000248633.4:p.Ser904=
ENST00000248633.8:c.2710A=	ENSP00000248633.4:p.Ser904=
ENST00000428214.5:c.2539A=	ENSP00000394413.1:p.Ser847=
ENST00000438045.5:c.1744A=	ENSP00000410438.1:p.Ser582=
ENST00000484913.5:n.2749A=
ENST00000496420.5:n.2602A=
NM_000466.2:c.2710A=	NP_000457.1:p.Ser904=
NM_001282677.1:c.2539A=	NP_001269606.1:p.Ser847=
NM_001282678.1:c.2086A=	NP_001269607.1:p.Ser696=
XM_005250433.3:c.961A=	XP_005250490.1:p.Ser321=
XR_242246.3:n.2806A=
XM_017012319.2:c.961A=	XP_016867808.1:p.Ser321=
XR_001744808.2:n.1737A=
XR_242246.5:n.2757A=
NM_000466.3:c.2710A= MANE Select	NP_000457.1:p.Ser904=
NM_001282677.2:c.2539A=	NP_001269606.1:p.Ser847=
NM_001282678.2:c.2086A=	NP_001269607.1:p.Ser696=