Canonical Allele Identifier: CA1725947912

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517799G= , CM000669.2:g.92517799G=	GRCh38
NC_000007.13:g.92147113G= , CM000669.1:g.92147113G=	GRCh37
NC_000007.12:g.91985049G=	NCBI36
NG_008341.1:g.15733C=
NG_008341.2:g.15733C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.716C= MANE Select	ENSP00000248633.4:p.Ser239=
ENST00000248633.8:c.716C=	ENSP00000248633.4:p.Ser239=
ENST00000428214.5:c.716C=	ENSP00000394413.1:p.Ser239=
ENST00000438045.5:c.274-3832C=	ENSP00000410438.1:n.274-3832C=
ENST00000484913.5:n.755C=
NM_000466.2:c.716C=	NP_000457.1:p.Ser239=
NM_001282677.1:c.716C=	NP_001269606.1:p.Ser239=
NM_001282678.1:c.92C=	NP_001269607.1:p.Ser31=
XR_242246.3:n.812C=
XR_242246.5:n.763C=
NM_000466.3:c.716C= MANE Select	NP_000457.1:p.Ser239=
NM_001282677.2:c.716C=	NP_001269606.1:p.Ser239=
NM_001282678.2:c.92C=	NP_001269607.1:p.Ser31=