Canonical Allele Identifier: CA368160127

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92118707T>G (hg19) ; chr7:g.92489393T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489393T>G , CM000669.2:g.92489393T>G	GRCh38
NC_000007.13:g.92118707T>G , CM000669.1:g.92118707T>G	GRCh37
NC_000007.12:g.91956643T>G	NCBI36
NG_008341.1:g.44139A>C
NG_008341.2:g.44139A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3667A>C (PEX1) MANE Select	ENSP00000248633.4:p.Ile1223Leu
ENST00000248633.8:c.3667A>C (PEX1)	ENSP00000248633.4:p.Ile1223Leu
ENST00000428214.5:c.3496A>C (PEX1)	ENSP00000394413.1:p.Ile1166Leu
ENST00000438045.5:c.2701A>C (PEX1)	ENSP00000410438.1:p.Ile901Leu
ENST00000469417.1:n.564A>C (PEX1)
ENST00000477342.1:n.402A>C (PEX1)
ENST00000484913.5:n.3706A>C (PEX1)
ENST00000496420.5:n.4717A>C (PEX1)
NM_000466.2:c.3667A>C (PEX1)	NP_000457.1:p.Ile1223Leu
NM_001282677.1:c.3496A>C (PEX1)	NP_001269606.1:p.Ile1166Leu
NM_001282678.1:c.3043A>C (PEX1)	NP_001269607.1:p.Ile1015Leu
XM_005250433.3:c.1918A>C (PEX1)	XP_005250490.1:p.Ile640Leu
XR_242246.3:n.3758A>C (PEX1)
XR_927494.1:n.1036-1850T>G (GATAD1)
XR_927495.1:n.1036-693T>G (GATAD1)
XR_927496.1:n.1041-1850T>G (GATAD1)
XR_927497.1:n.1036-693T>G (GATAD1)
XR_927498.1:n.1124-1850T>G (GATAD1)
XR_927500.1:n.1033-1850T>G (GATAD1)
XR_927502.1:n.1033-693T>G (GATAD1)
XR_927503.1:n.967-1850T>G (GATAD1)
XM_017012319.2:c.1918A>C (PEX1)	XP_016867808.1:p.Ile640Leu
XR_001744808.2:n.2689A>C (PEX1)
XR_001744842.2:n.2281-1850T>G (GATAD1)
XR_001744843.2:n.2212-1850T>G (GATAD1)
XR_002956472.1:n.2281-693T>G (GATAD1)
XR_002956473.1:n.2369-1850T>G (GATAD1)
XR_002956474.1:n.2286-1850T>G (GATAD1)
XR_242246.5:n.3709A>C (PEX1)
XR_927494.3:n.1063-1850T>G (GATAD1)
XR_927500.3:n.1060-1850T>G (GATAD1)
XR_927503.3:n.994-1850T>G (GATAD1)
NM_000466.3:c.3667A>C (PEX1) MANE Select	NP_000457.1:p.Ile1223Leu
NM_001282677.2:c.3496A>C (PEX1)	NP_001269606.1:p.Ile1166Leu
NM_001282678.2:c.3043A>C (PEX1)	NP_001269607.1:p.Ile1015Leu