Canonical Allele Identifier: CA368158385

Gene: PEX1 GATAD1

Linked Data

• ClinVar Variation Id: 1719805
• ClinVar RCV Id: RCV002303990
• MyVariant Identifiers: chr7:g.92116815T>G (hg19) ; chr7:g.92487501T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92487501T>G , CM000669.2:g.92487501T>G	GRCh38
NC_000007.13:g.92116815T>G , CM000669.1:g.92116815T>G	GRCh37
NC_000007.12:g.91954751T>G	NCBI36
NG_008341.1:g.46031A>C
NG_008341.2:g.46031A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3808A>C (PEX1) MANE Select	ENSP00000248633.4:p.Ser1270Arg
ENST00000248633.8:c.3808A>C (PEX1)	ENSP00000248633.4:p.Ser1270Arg
ENST00000428214.5:c.3637A>C (PEX1)	ENSP00000394413.1:p.Ser1213Arg
ENST00000438045.5:c.2842A>C (PEX1)	ENSP00000410438.1:p.Ser948Arg
ENST00000477342.1:n.543A>C (PEX1)
ENST00000484913.5:n.3847A>C (PEX1)
ENST00000496420.5:n.4858A>C (PEX1)
NM_000466.2:c.3808A>C (PEX1)	NP_000457.1:p.Ser1270Arg
NM_001282677.1:c.3637A>C (PEX1)	NP_001269606.1:p.Ser1213Arg
NM_001282678.1:c.3184A>C (PEX1)	NP_001269607.1:p.Ser1062Arg
XM_005250433.3:c.2059A>C (PEX1)	XP_005250490.1:p.Ser687Arg
XR_242246.3:n.3899A>C (PEX1)
XR_927494.1:n.1036-3742T>G (GATAD1)
XR_927495.1:n.1036-2585T>G (GATAD1)
XR_927496.1:n.1041-3742T>G (GATAD1)
XR_927497.1:n.1036-2585T>G (GATAD1)
XR_927498.1:n.1124-3742T>G (GATAD1)
XR_927500.1:n.1033-3742T>G (GATAD1)
XR_927502.1:n.1033-2585T>G (GATAD1)
XR_927503.1:n.967-3742T>G (GATAD1)
XM_017012319.2:c.2059A>C (PEX1)	XP_016867808.1:p.Ser687Arg
XR_001744808.2:n.2830A>C (PEX1)
XR_001744842.2:n.2281-3742T>G (GATAD1)
XR_001744843.2:n.2212-3742T>G (GATAD1)
XR_002956472.1:n.2281-2585T>G (GATAD1)
XR_002956473.1:n.2369-3742T>G (GATAD1)
XR_002956474.1:n.2286-3742T>G (GATAD1)
XR_242246.5:n.3850A>C (PEX1)
XR_927494.3:n.1063-3742T>G (GATAD1)
XR_927500.3:n.1060-3742T>G (GATAD1)
XR_927503.3:n.994-3742T>G (GATAD1)
NM_000466.3:c.3808A>C (PEX1) MANE Select	NP_000457.1:p.Ser1270Arg
NM_001282677.2:c.3637A>C (PEX1)	NP_001269606.1:p.Ser1213Arg
NM_001282678.2:c.3184A>C (PEX1)	NP_001269607.1:p.Ser1062Arg