Canonical Allele Identifier: CA368163534

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92120634A>T (hg19) ; chr7:g.92491320A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491320A>T , CM000669.2:g.92491320A>T	GRCh38
NC_000007.13:g.92120634A>T , CM000669.1:g.92120634A>T	GRCh37
NC_000007.12:g.91958570A>T	NCBI36
NG_008341.1:g.42212T>A
NG_008341.2:g.42212T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3390T>A (PEX1) MANE Select	ENSP00000248633.4:p.Phe1130Leu
ENST00000248633.8:c.3390T>A (PEX1)	ENSP00000248633.4:p.Phe1130Leu
ENST00000428214.5:c.3219T>A (PEX1)	ENSP00000394413.1:p.Phe1073Leu
ENST00000438045.5:c.2424T>A (PEX1)	ENSP00000410438.1:p.Phe808Leu
ENST00000484913.5:n.3429T>A (PEX1)
ENST00000496420.5:n.4445T>A (PEX1)
NM_000466.2:c.3390T>A (PEX1)	NP_000457.1:p.Phe1130Leu
NM_001282677.1:c.3219T>A (PEX1)	NP_001269606.1:p.Phe1073Leu
NM_001282678.1:c.2766T>A (PEX1)	NP_001269607.1:p.Phe922Leu
XM_005250433.3:c.1641T>A (PEX1)	XP_005250490.1:p.Phe547Leu
XR_242246.3:n.3486T>A (PEX1)
XR_927494.1:n.1113A>T (GATAD1)
XR_927496.1:n.1118A>T (GATAD1)
XR_927497.1:n.1170A>T (GATAD1)
XR_927498.1:n.1201A>T (GATAD1)
XR_927500.1:n.1110A>T (GATAD1)
XR_927503.1:n.1044A>T (GATAD1)
XM_017012319.2:c.1641T>A (PEX1)	XP_016867808.1:p.Phe547Leu
XR_001744808.2:n.2417T>A (PEX1)
XR_001744842.2:n.2358A>T (GATAD1)
XR_001744843.2:n.2289A>T (GATAD1)
XR_002956472.1:n.2415A>T (GATAD1)
XR_002956473.1:n.2446A>T (GATAD1)
XR_002956474.1:n.2363A>T (GATAD1)
XR_242246.5:n.3437T>A (PEX1)
XR_927494.3:n.1140A>T (GATAD1)
XR_927500.3:n.1137A>T (GATAD1)
XR_927503.3:n.1071A>T (GATAD1)
NM_000466.3:c.3390T>A (PEX1) MANE Select	NP_000457.1:p.Phe1130Leu
NM_001282677.2:c.3219T>A (PEX1)	NP_001269606.1:p.Phe1073Leu
NM_001282678.2:c.2766T>A (PEX1)	NP_001269607.1:p.Phe922Leu