Canonical Allele Identifier: CA1725937862

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92510975C= , CM000669.2:g.92510975C=	GRCh38
NC_000007.13:g.92140289C= , CM000669.1:g.92140289C=	GRCh37
NC_000007.12:g.91978225C=	NCBI36
NG_008341.1:g.22557G=
NG_008341.2:g.22557G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1556G= MANE Select	ENSP00000248633.4:p.Ser519=
ENST00000248633.8:c.1556G=	ENSP00000248633.4:p.Ser519=
ENST00000422866.1:c.457G=
ENST00000428214.5:c.1556G=	ENSP00000394413.1:p.Ser519=
ENST00000438045.5:c.590G=	ENSP00000410438.1:p.Ser197=
ENST00000476923.1:n.317G=
ENST00000484913.5:n.1595G=
NM_000466.2:c.1556G=	NP_000457.1:p.Ser519=
NM_001282677.1:c.1556G=	NP_001269606.1:p.Ser519=
NM_001282678.1:c.932G=	NP_001269607.1:p.Ser311=
XM_005250433.3:c.-111G=	XP_005250490.1:n.-111G=
XR_242246.3:n.1652G=
XM_017012319.2:c.-111G=	XP_016867808.1:n.-111G=
XR_001744808.2:n.666G=
XR_242246.5:n.1603G=
NM_000466.3:c.1556G= MANE Select	NP_000457.1:p.Ser519=
NM_001282677.2:c.1556G=	NP_001269606.1:p.Ser519=
NM_001282678.2:c.932G=	NP_001269607.1:p.Ser311=