Canonical Allele Identifier: CA368183119

Gene: PEX1

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504773T>G , CM000669.2:g.92504773T>G	GRCh38
NC_000007.13:g.92134087T>G , CM000669.1:g.92134087T>G	GRCh37
NC_000007.12:g.91972023T>G	NCBI36
NG_008341.1:g.28759A>C
NG_008341.2:g.28759A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2030A>C MANE Select	ENSP00000248633.4:p.Glu677Ala
ENST00000248633.8:c.2030A>C	ENSP00000248633.4:p.Glu677Ala
ENST00000428214.5:c.1900+1475A>C	ENSP00000394413.1:n.1900+1475A>C
ENST00000438045.5:c.1064A>C	ENSP00000410438.1:p.Glu355Ala
ENST00000484913.5:n.2069A>C
ENST00000496420.5:n.1706A>C
NM_000466.2:c.2030A>C	NP_000457.1:p.Glu677Ala
NM_001282677.1:c.1900+1475A>C	NP_001269606.1:n.1900+1475A>C
NM_001282678.1:c.1406A>C	NP_001269607.1:p.Glu469Ala
XM_005250433.3:c.281A>C	XP_005250490.1:p.Glu94Ala
XR_242246.3:n.2126A>C
XM_017012319.2:c.281A>C	XP_016867808.1:p.Glu94Ala
XR_001744808.2:n.1057A>C
XR_242246.5:n.2077A>C
NM_000466.3:c.2030A>C MANE Select	NP_000457.1:p.Glu677Ala
NM_001282677.2:c.1900+1475A>C	NP_001269606.1:n.1900+1475A>C
NM_001282678.2:c.1406A>C	NP_001269607.1:p.Glu469Ala