Canonical Allele Identifier: CA368163396

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92120620T>G (hg19) ; chr7:g.92491306T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491306T>G , CM000669.2:g.92491306T>G	GRCh38
NC_000007.13:g.92120620T>G , CM000669.1:g.92120620T>G	GRCh37
NC_000007.12:g.91958556T>G	NCBI36
NG_008341.1:g.42226A>C
NG_008341.2:g.42226A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.3404A>C (PEX1) MANE Select	ENSP00000248633.4:p.Glu1135Ala
ENST00000248633.8:c.3404A>C (PEX1)	ENSP00000248633.4:p.Glu1135Ala
ENST00000428214.5:c.3233A>C (PEX1)	ENSP00000394413.1:p.Glu1078Ala
ENST00000438045.5:c.2438A>C (PEX1)	ENSP00000410438.1:p.Glu813Ala
ENST00000484913.5:n.3443A>C (PEX1)
ENST00000496420.5:n.4459A>C (PEX1)
NM_000466.2:c.3404A>C (PEX1)	NP_000457.1:p.Glu1135Ala
NM_001282677.1:c.3233A>C (PEX1)	NP_001269606.1:p.Glu1078Ala
NM_001282678.1:c.2780A>C (PEX1)	NP_001269607.1:p.Glu927Ala
XM_005250433.3:c.1655A>C (PEX1)	XP_005250490.1:p.Glu552Ala
XR_242246.3:n.3500A>C (PEX1)
XR_927494.1:n.1099T>G (GATAD1)
XR_927496.1:n.1104T>G (GATAD1)
XR_927497.1:n.1156T>G (GATAD1)
XR_927498.1:n.1187T>G (GATAD1)
XR_927500.1:n.1096T>G (GATAD1)
XR_927503.1:n.1030T>G (GATAD1)
XM_017012319.2:c.1655A>C (PEX1)	XP_016867808.1:p.Glu552Ala
XR_001744808.2:n.2431A>C (PEX1)
XR_001744842.2:n.2344T>G (GATAD1)
XR_001744843.2:n.2275T>G (GATAD1)
XR_002956472.1:n.2401T>G (GATAD1)
XR_002956473.1:n.2432T>G (GATAD1)
XR_002956474.1:n.2349T>G (GATAD1)
XR_242246.5:n.3451A>C (PEX1)
XR_927494.3:n.1126T>G (GATAD1)
XR_927500.3:n.1123T>G (GATAD1)
XR_927503.3:n.1057T>G (GATAD1)
NM_000466.3:c.3404A>C (PEX1) MANE Select	NP_000457.1:p.Glu1135Ala
NM_001282677.2:c.3233A>C (PEX1)	NP_001269606.1:p.Glu1078Ala
NM_001282678.2:c.2780A>C (PEX1)	NP_001269607.1:p.Glu927Ala