Canonical Allele Identifier: CA368160962

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92119054T>G (hg19) ; chr7:g.92489740T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489740T>G , CM000669.2:g.92489740T>G	GRCh38
NC_000007.13:g.92119054T>G , CM000669.1:g.92119054T>G	GRCh37
NC_000007.12:g.91956990T>G	NCBI36
NG_008341.1:g.43792A>C
NG_008341.2:g.43792A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.3610A>C (PEX1) MANE Select	ENSP00000248633.4:p.Lys1204Gln
ENST00000248633.8:c.3610A>C (PEX1)	ENSP00000248633.4:p.Lys1204Gln
ENST00000428214.5:c.3439A>C (PEX1)	ENSP00000394413.1:p.Lys1147Gln
ENST00000438045.5:c.2644A>C (PEX1)	ENSP00000410438.1:p.Lys882Gln
ENST00000469417.1:n.507A>C (PEX1)
ENST00000477342.1:n.55A>C (PEX1)
ENST00000484913.5:n.3649A>C (PEX1)
ENST00000496420.5:n.4665A>C (PEX1)
NM_000466.2:c.3610A>C (PEX1)	NP_000457.1:p.Lys1204Gln
NM_001282677.1:c.3439A>C (PEX1)	NP_001269606.1:p.Lys1147Gln
NM_001282678.1:c.2986A>C (PEX1)	NP_001269607.1:p.Lys996Gln
XM_005250433.3:c.1861A>C (PEX1)	XP_005250490.1:p.Lys621Gln
XR_242246.3:n.3706A>C (PEX1)
XR_927494.1:n.1036-1503T>G (GATAD1)
XR_927495.1:n.1036-346T>G (GATAD1)
XR_927496.1:n.1041-1503T>G (GATAD1)
XR_927497.1:n.1036-346T>G (GATAD1)
XR_927498.1:n.1124-1503T>G (GATAD1)
XR_927500.1:n.1033-1503T>G (GATAD1)
XR_927502.1:n.1033-346T>G (GATAD1)
XR_927503.1:n.967-1503T>G (GATAD1)
XM_017012319.2:c.1861A>C (PEX1)	XP_016867808.1:p.Lys621Gln
XR_001744808.2:n.2637A>C (PEX1)
XR_001744842.2:n.2281-1503T>G (GATAD1)
XR_001744843.2:n.2212-1503T>G (GATAD1)
XR_002956472.1:n.2281-346T>G (GATAD1)
XR_002956473.1:n.2369-1503T>G (GATAD1)
XR_002956474.1:n.2286-1503T>G (GATAD1)
XR_242246.5:n.3657A>C (PEX1)
XR_927494.3:n.1063-1503T>G (GATAD1)
XR_927500.3:n.1060-1503T>G (GATAD1)
XR_927503.3:n.994-1503T>G (GATAD1)
NM_000466.3:c.3610A>C (PEX1) MANE Select	NP_000457.1:p.Lys1204Gln
NM_001282677.2:c.3439A>C (PEX1)	NP_001269606.1:p.Lys1147Gln
NM_001282678.2:c.2986A>C (PEX1)	NP_001269607.1:p.Lys996Gln