Canonical Allele Identifier: CA1725936107

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501965C= , CM000669.2:g.92501965C=	GRCh38
NC_000007.13:g.92131279C= , CM000669.1:g.92131279C=	GRCh37
NC_000007.12:g.91969215C=	NCBI36
NG_008341.1:g.31567G=
NG_008341.2:g.31567G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2341G= MANE Select	ENSP00000248633.4:p.Ala781=
ENST00000248633.8:c.2341G=	ENSP00000248633.4:p.Ala781=
ENST00000428214.5:c.2170G=	ENSP00000394413.1:p.Ala724=
ENST00000438045.5:c.1375G=	ENSP00000410438.1:p.Ala459=
ENST00000484913.5:n.2380G=
ENST00000496092.1:n.139G=
ENST00000496420.5:n.2017G=
NM_000466.2:c.2341G=	NP_000457.1:p.Ala781=
NM_001282677.1:c.2170G=	NP_001269606.1:p.Ala724=
NM_001282678.1:c.1717G=	NP_001269607.1:p.Ala573=
XM_005250433.3:c.592G=	XP_005250490.1:p.Ala198=
XR_242246.3:n.2437G=
XM_017012319.2:c.592G=	XP_016867808.1:p.Ala198=
XR_001744808.2:n.1368G=
XR_242246.5:n.2388G=
NM_000466.3:c.2341G= MANE Select	NP_000457.1:p.Ala781=
NM_001282677.2:c.2170G=	NP_001269606.1:p.Ala724=
NM_001282678.2:c.1717G=	NP_001269607.1:p.Ala573=