Canonical Allele Identifier: CA368187255

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92507020C>G , CM000669.2:g.92507020C>G	GRCh38
NC_000007.13:g.92136334C>G , CM000669.1:g.92136334C>G	GRCh37
NC_000007.12:g.91974270C>G	NCBI36
NG_008341.1:g.26512G>C
NG_008341.2:g.26512G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000466.3:c.1777G>C MANE Select	NP_000457.1:p.Gly593Arg
ENST00000248633.9:c.1777G>C MANE Select	ENSP00000248633.4:p.Gly593Arg
NM_000466.2:c.1777G>C	NP_000457.1:p.Gly593Arg
NM_001282677.1:c.1777G>C	NP_001269606.1:p.Gly593Arg
NM_001282677.2:c.1777G>C	NP_001269606.1:p.Gly593Arg
NM_001282678.1:c.1153G>C	NP_001269607.1:p.Gly385Arg
NM_001282678.2:c.1153G>C	NP_001269607.1:p.Gly385Arg
ENST00000248633.8:c.1777G>C	ENSP00000248633.4:p.Gly593Arg
ENST00000422866.1:c.595G>C
ENST00000428214.5:c.1777G>C	ENSP00000394413.1:p.Gly593Arg
ENST00000438045.5:c.811G>C	ENSP00000410438.1:p.Gly271Arg
ENST00000484913.5:n.1816G>C
ENST00000496420.5:n.804G>C
XM_005250433.3:c.28G>C	XP_005250490.1:p.Gly10Arg
XM_017012319.2:c.28G>C	XP_016867808.1:p.Gly10Arg
XR_001744808.2:n.804G>C
XR_242246.3:n.1873G>C
XR_242246.5:n.1824G>C