Canonical Allele Identifier: CA161960309

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501914G>C , CM000669.2:g.92501914G>C	GRCh38
NC_000007.13:g.92131228G>C , CM000669.1:g.92131228G>C	GRCh37
NC_000007.12:g.91969164G>C	NCBI36
NG_008341.1:g.31618C>G
NG_008341.2:g.31618C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000466.3:c.2392C>G MANE Select	NP_000457.1:p.Arg798Gly
ENST00000248633.9:c.2392C>G MANE Select	ENSP00000248633.4:p.Arg798Gly
NM_000466.2:c.2392C>G	NP_000457.1:p.Arg798Gly
NM_001282677.1:c.2221C>G	NP_001269606.1:p.Arg741Gly
NM_001282677.2:c.2221C>G	NP_001269606.1:p.Arg741Gly
NM_001282678.1:c.1768C>G	NP_001269607.1:p.Arg590Gly
NM_001282678.2:c.1768C>G	NP_001269607.1:p.Arg590Gly
ENST00000248633.8:c.2392C>G	ENSP00000248633.4:p.Arg798Gly
ENST00000428214.5:c.2221C>G	ENSP00000394413.1:p.Arg741Gly
ENST00000438045.5:c.1426C>G	ENSP00000410438.1:p.Arg476Gly
ENST00000484913.5:n.2431C>G
ENST00000496092.1:n.190C>G
ENST00000496420.5:n.2068C>G
XM_005250433.3:c.643C>G	XP_005250490.1:p.Arg215Gly
XM_017012319.2:c.643C>G	XP_016867808.1:p.Arg215Gly
XR_001744808.2:n.1419C>G
XR_242246.3:n.2488C>G
XR_242246.5:n.2439C>G