Canonical Allele Identifier: CA368185511

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506338C>G , CM000669.2:g.92506338C>G	GRCh38
NC_000007.13:g.92135652C>G , CM000669.1:g.92135652C>G	GRCh37
NC_000007.12:g.91973588C>G	NCBI36
NG_008341.1:g.27194G>C
NG_008341.2:g.27194G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000466.3:c.1810G>C MANE Select	NP_000457.1:p.Gly604Arg
ENST00000248633.9:c.1810G>C MANE Select	ENSP00000248633.4:p.Gly604Arg
NM_000466.2:c.1810G>C	NP_000457.1:p.Gly604Arg
NM_001282677.1:c.1810G>C	NP_001269606.1:p.Gly604Arg
NM_001282677.2:c.1810G>C	NP_001269606.1:p.Gly604Arg
NM_001282678.1:c.1186G>C	NP_001269607.1:p.Gly396Arg
NM_001282678.2:c.1186G>C	NP_001269607.1:p.Gly396Arg
ENST00000248633.8:c.1810G>C	ENSP00000248633.4:p.Gly604Arg
ENST00000422866.1:c.628G>C
ENST00000428214.5:c.1810G>C	ENSP00000394413.1:p.Gly604Arg
ENST00000438045.5:c.844G>C	ENSP00000410438.1:p.Gly282Arg
ENST00000484913.5:n.1849G>C
ENST00000496420.5:n.1486G>C
XM_005250433.3:c.61G>C	XP_005250490.1:p.Gly21Arg
XM_017012319.2:c.61G>C	XP_016867808.1:p.Gly21Arg
XR_001744808.2:n.837G>C
XR_242246.3:n.1906G>C
XR_242246.5:n.1857G>C