Canonical Allele Identifier: CA456480748

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92119136C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489822C>G , CM000669.2:g.92489822C>G	GRCh38
NC_000007.13:g.92119136C>G , CM000669.1:g.92119136C>G	GRCh37
NC_000007.12:g.91957072C>G	NCBI36
NG_008341.1:g.43710G>C
NG_008341.2:g.43710G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.3528G>C (PEX1) MANE Select	ENSP00000248633.4:p.Val1176=
ENST00000248633.8:c.3528G>C (PEX1)	ENSP00000248633.4:p.Val1176=
ENST00000428214.5:c.3357G>C (PEX1)	ENSP00000394413.1:p.Val1119=
ENST00000438045.5:c.2562G>C (PEX1)	ENSP00000410438.1:p.Val854=
ENST00000469417.1:n.425G>C (PEX1)
ENST00000484913.5:n.3567G>C (PEX1)
ENST00000496420.5:n.4583G>C (PEX1)
NM_000466.2:c.3528G>C (PEX1)	NP_000457.1:p.Val1176=
NM_001282677.1:c.3357G>C (PEX1)	NP_001269606.1:p.Val1119=
NM_001282678.1:c.2904G>C (PEX1)	NP_001269607.1:p.Val968=
XM_005250433.3:c.1779G>C (PEX1)	XP_005250490.1:p.Val593=
XR_242246.3:n.3624G>C (PEX1)
XR_927494.1:n.1036-1421C>G (GATAD1)
XR_927495.1:n.1036-264C>G (GATAD1)
XR_927496.1:n.1041-1421C>G (GATAD1)
XR_927497.1:n.1036-264C>G (GATAD1)
XR_927498.1:n.1124-1421C>G (GATAD1)
XR_927500.1:n.1033-1421C>G (GATAD1)
XR_927502.1:n.1033-264C>G (GATAD1)
XR_927503.1:n.967-1421C>G (GATAD1)
XM_017012319.2:c.1779G>C (PEX1)	XP_016867808.1:p.Val593=
XR_001744808.2:n.2555G>C (PEX1)
XR_001744842.2:n.2281-1421C>G (GATAD1)
XR_001744843.2:n.2212-1421C>G (GATAD1)
XR_002956472.1:n.2281-264C>G (GATAD1)
XR_002956473.1:n.2369-1421C>G (GATAD1)
XR_002956474.1:n.2286-1421C>G (GATAD1)
XR_242246.5:n.3575G>C (PEX1)
XR_927494.3:n.1063-1421C>G (GATAD1)
XR_927500.3:n.1060-1421C>G (GATAD1)
XR_927503.3:n.994-1421C>G (GATAD1)
NM_000466.3:c.3528G>C (PEX1) MANE Select	NP_000457.1:p.Val1176=
NM_001282677.2:c.3357G>C (PEX1)	NP_001269606.1:p.Val1119=
NM_001282678.2:c.2904G>C (PEX1)	NP_001269607.1:p.Val968=