Canonical Allele Identifier: CA368188022

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92507125C>A , CM000669.2:g.92507125C>A	GRCh38
NC_000007.13:g.92136439C>A , CM000669.1:g.92136439C>A	GRCh37
NC_000007.12:g.91974375C>A	NCBI36
NG_008341.1:g.26407G>T
NG_008341.2:g.26407G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000466.3:c.1672G>T MANE Select	NP_000457.1:p.Gly558Ter
ENST00000248633.9:c.1672G>T MANE Select	ENSP00000248633.4:p.Gly558Ter
NM_000466.2:c.1672G>T	NP_000457.1:p.Gly558Ter
NM_001282677.1:c.1672G>T	NP_001269606.1:p.Gly558Ter
NM_001282677.2:c.1672G>T	NP_001269606.1:p.Gly558Ter
NM_001282678.1:c.1048G>T	NP_001269607.1:p.Gly350Ter
NM_001282678.2:c.1048G>T	NP_001269607.1:p.Gly350Ter
ENST00000248633.8:c.1672G>T	ENSP00000248633.4:p.Gly558Ter
ENST00000422866.1:c.490G>T
ENST00000428214.5:c.1672G>T	ENSP00000394413.1:p.Gly558Ter
ENST00000438045.5:c.706G>T	ENSP00000410438.1:p.Gly236Ter
ENST00000484913.5:n.1711G>T
ENST00000496420.5:n.699G>T
XM_005250433.3:c.-78G>T	XP_005250490.1:n.-78G>T
XM_017012319.2:c.-78G>T	XP_016867808.1:n.-78G>T
XR_001744808.2:n.699G>T
XR_242246.3:n.1768G>T
XR_242246.5:n.1719G>T