Canonical Allele Identifier: CA368166176

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92492991C>A , CM000669.2:g.92492991C>A	GRCh38
NC_000007.13:g.92122305C>A , CM000669.1:g.92122305C>A	GRCh37
NC_000007.12:g.91960241C>A	NCBI36
NG_008341.1:g.40541G>T
NG_008341.2:g.40541G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000466.3:c.3169G>T (PEX1) MANE Select	NP_000457.1:p.Glu1057Ter
ENST00000248633.9:c.3169G>T (PEX1) MANE Select	ENSP00000248633.4:p.Glu1057Ter
NM_000466.2:c.3169G>T (PEX1)	NP_000457.1:p.Glu1057Ter
NM_001282677.1:c.2998G>T (PEX1)	NP_001269606.1:p.Glu1000Ter
NM_001282677.2:c.2998G>T (PEX1)	NP_001269606.1:p.Glu1000Ter
NM_001282678.1:c.2545G>T (PEX1)	NP_001269607.1:p.Glu849Ter
NM_001282678.2:c.2545G>T (PEX1)	NP_001269607.1:p.Glu849Ter
ENST00000248633.8:c.3169G>T (PEX1)	ENSP00000248633.4:p.Glu1057Ter
ENST00000428214.5:c.2998G>T (PEX1)	ENSP00000394413.1:p.Glu1000Ter
ENST00000438045.5:c.2203G>T (PEX1)	ENSP00000410438.1:p.Glu735Ter
ENST00000484913.5:n.3208G>T (PEX1)
ENST00000496420.5:n.4224G>T (PEX1)
XM_005250433.3:c.1420G>T (PEX1)	XP_005250490.1:p.Glu474Ter
XM_017012319.2:c.1420G>T (PEX1)	XP_016867808.1:p.Glu474Ter
XR_001744808.2:n.2196G>T (PEX1)
XR_001744842.2:n.4029C>A (GATAD1)
XR_001744843.2:n.3960C>A (GATAD1)
XR_002956472.1:n.4086C>A (GATAD1)
XR_002956473.1:n.4117C>A (GATAD1)
XR_002956474.1:n.4034C>A (GATAD1)
XR_242246.3:n.3265G>T (PEX1)
XR_242246.5:n.3216G>T (PEX1)
XR_927494.3:n.2811C>A (GATAD1)
XR_927500.3:n.2808C>A (GATAD1)
XR_927503.3:n.2742C>A (GATAD1)