Canonical Allele Identifier: CA368165801

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92492955G>A , CM000669.2:g.92492955G>A	GRCh38
NC_000007.13:g.92122269G>A , CM000669.1:g.92122269G>A	GRCh37
NC_000007.12:g.91960205G>A	NCBI36
NG_008341.1:g.40577C>T
NG_008341.2:g.40577C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000466.3:c.3205C>T (PEX1) MANE Select	NP_000457.1:p.Gln1069Ter
ENST00000248633.9:c.3205C>T (PEX1) MANE Select	ENSP00000248633.4:p.Gln1069Ter
NM_000466.2:c.3205C>T (PEX1)	NP_000457.1:p.Gln1069Ter
NM_001282677.1:c.3034C>T (PEX1)	NP_001269606.1:p.Gln1012Ter
NM_001282677.2:c.3034C>T (PEX1)	NP_001269606.1:p.Gln1012Ter
NM_001282678.1:c.2581C>T (PEX1)	NP_001269607.1:p.Gln861Ter
NM_001282678.2:c.2581C>T (PEX1)	NP_001269607.1:p.Gln861Ter
ENST00000248633.8:c.3205C>T (PEX1)	ENSP00000248633.4:p.Gln1069Ter
ENST00000428214.5:c.3034C>T (PEX1)	ENSP00000394413.1:p.Gln1012Ter
ENST00000438045.5:c.2239C>T (PEX1)	ENSP00000410438.1:p.Gln747Ter
ENST00000484913.5:n.3244C>T (PEX1)
ENST00000496420.5:n.4260C>T (PEX1)
XM_005250433.3:c.1456C>T (PEX1)	XP_005250490.1:p.Gln486Ter
XM_017012319.2:c.1456C>T (PEX1)	XP_016867808.1:p.Gln486Ter
XR_001744808.2:n.2232C>T (PEX1)
XR_001744842.2:n.3993G>A (GATAD1)
XR_001744843.2:n.3924G>A (GATAD1)
XR_002956472.1:n.4050G>A (GATAD1)
XR_002956473.1:n.4081G>A (GATAD1)
XR_002956474.1:n.3998G>A (GATAD1)
XR_242246.3:n.3301C>T (PEX1)
XR_242246.5:n.3252C>T (PEX1)
XR_927494.3:n.2775G>A (GATAD1)
XR_927500.3:n.2772G>A (GATAD1)
XR_927503.3:n.2706G>A (GATAD1)