Canonical Allele Identifier: CA161954483

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92493083A>G , CM000669.2:g.92493083A>G	GRCh38
NC_000007.13:g.92122397A>G , CM000669.1:g.92122397A>G	GRCh37
NC_000007.12:g.91960333A>G	NCBI36
NG_008341.1:g.40449T>C
NG_008341.2:g.40449T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000466.3:c.3077T>C (PEX1) MANE Select	NP_000457.1:p.Leu1026Pro
ENST00000248633.9:c.3077T>C (PEX1) MANE Select	ENSP00000248633.4:p.Leu1026Pro
NM_000466.2:c.3077T>C (PEX1)	NP_000457.1:p.Leu1026Pro
NM_001282677.1:c.2906T>C (PEX1)	NP_001269606.1:p.Leu969Pro
NM_001282677.2:c.2906T>C (PEX1)	NP_001269606.1:p.Leu969Pro
NM_001282678.1:c.2453T>C (PEX1)	NP_001269607.1:p.Leu818Pro
NM_001282678.2:c.2453T>C (PEX1)	NP_001269607.1:p.Leu818Pro
ENST00000248633.8:c.3077T>C (PEX1)	ENSP00000248633.4:p.Leu1026Pro
ENST00000428214.5:c.2906T>C (PEX1)	ENSP00000394413.1:p.Leu969Pro
ENST00000438045.5:c.2111T>C (PEX1)	ENSP00000410438.1:p.Leu704Pro
ENST00000484913.5:n.3116T>C (PEX1)
ENST00000496420.5:n.4132T>C (PEX1)
XM_005250433.3:c.1328T>C (PEX1)	XP_005250490.1:p.Leu443Pro
XM_017012319.2:c.1328T>C (PEX1)	XP_016867808.1:p.Leu443Pro
XR_001744808.2:n.2104T>C (PEX1)
XR_001744842.2:n.4121A>G (GATAD1)
XR_001744843.2:n.4052A>G (GATAD1)
XR_002956472.1:n.4178A>G (GATAD1)
XR_002956473.1:n.4209A>G (GATAD1)
XR_002956474.1:n.4126A>G (GATAD1)
XR_242246.3:n.3173T>C (PEX1)
XR_242246.5:n.3124T>C (PEX1)
XR_927494.3:n.2903A>G (GATAD1)
XR_927500.3:n.2900A>G (GATAD1)
XR_927503.3:n.2834A>G (GATAD1)