Canonical Allele Identifier: CA1725941143

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506283G= , CM000669.2:g.92506283G=	GRCh38
NC_000007.13:g.92135597G= , CM000669.1:g.92135597G=	GRCh37
NC_000007.12:g.91973533G=	NCBI36
NG_008341.1:g.27249C=
NG_008341.2:g.27249C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1865C= MANE Select	ENSP00000248633.4:p.Ala622=
ENST00000248633.8:c.1865C=	ENSP00000248633.4:p.Ala622=
ENST00000422866.1:c.683C=
ENST00000428214.5:c.1865C=	ENSP00000394413.1:p.Ala622=
ENST00000438045.5:c.899C=	ENSP00000410438.1:p.Ala300=
ENST00000484913.5:n.1904C=
ENST00000496420.5:n.1541C=
NM_000466.2:c.1865C=	NP_000457.1:p.Ala622=
NM_001282677.1:c.1865C=	NP_001269606.1:p.Ala622=
NM_001282678.1:c.1241C=	NP_001269607.1:p.Ala414=
XM_005250433.3:c.116C=	XP_005250490.1:p.Ala39=
XR_242246.3:n.1961C=
XM_017012319.2:c.116C=	XP_016867808.1:p.Ala39=
XR_001744808.2:n.892C=
XR_242246.5:n.1912C=
NM_000466.3:c.1865C= MANE Select	NP_000457.1:p.Ala622=
NM_001282677.2:c.1865C=	NP_001269606.1:p.Ala622=
NM_001282678.2:c.1241C=	NP_001269607.1:p.Ala414=