Canonical Allele Identifier: CA368161629

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92119128G>C (hg19) ; chr7:g.92489814G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489814G>C , CM000669.2:g.92489814G>C	GRCh38
NC_000007.13:g.92119128G>C , CM000669.1:g.92119128G>C	GRCh37
NC_000007.12:g.91957064G>C	NCBI36
NG_008341.1:g.43718C>G
NG_008341.2:g.43718C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.3536C>G (PEX1) MANE Select	ENSP00000248633.4:p.Thr1179Arg
ENST00000248633.8:c.3536C>G (PEX1)	ENSP00000248633.4:p.Thr1179Arg
ENST00000428214.5:c.3365C>G (PEX1)	ENSP00000394413.1:p.Thr1122Arg
ENST00000438045.5:c.2570C>G (PEX1)	ENSP00000410438.1:p.Thr857Arg
ENST00000469417.1:n.433C>G (PEX1)
ENST00000484913.5:n.3575C>G (PEX1)
ENST00000496420.5:n.4591C>G (PEX1)
NM_000466.2:c.3536C>G (PEX1)	NP_000457.1:p.Thr1179Arg
NM_001282677.1:c.3365C>G (PEX1)	NP_001269606.1:p.Thr1122Arg
NM_001282678.1:c.2912C>G (PEX1)	NP_001269607.1:p.Thr971Arg
XM_005250433.3:c.1787C>G (PEX1)	XP_005250490.1:p.Thr596Arg
XR_242246.3:n.3632C>G (PEX1)
XR_927494.1:n.1036-1429G>C (GATAD1)
XR_927495.1:n.1036-272G>C (GATAD1)
XR_927496.1:n.1041-1429G>C (GATAD1)
XR_927497.1:n.1036-272G>C (GATAD1)
XR_927498.1:n.1124-1429G>C (GATAD1)
XR_927500.1:n.1033-1429G>C (GATAD1)
XR_927502.1:n.1033-272G>C (GATAD1)
XR_927503.1:n.967-1429G>C (GATAD1)
XM_017012319.2:c.1787C>G (PEX1)	XP_016867808.1:p.Thr596Arg
XR_001744808.2:n.2563C>G (PEX1)
XR_001744842.2:n.2281-1429G>C (GATAD1)
XR_001744843.2:n.2212-1429G>C (GATAD1)
XR_002956472.1:n.2281-272G>C (GATAD1)
XR_002956473.1:n.2369-1429G>C (GATAD1)
XR_002956474.1:n.2286-1429G>C (GATAD1)
XR_242246.5:n.3583C>G (PEX1)
XR_927494.3:n.1063-1429G>C (GATAD1)
XR_927500.3:n.1060-1429G>C (GATAD1)
XR_927503.3:n.994-1429G>C (GATAD1)
NM_000466.3:c.3536C>G (PEX1) MANE Select	NP_000457.1:p.Thr1179Arg
NM_001282677.2:c.3365C>G (PEX1)	NP_001269606.1:p.Thr1122Arg
NM_001282678.2:c.2912C>G (PEX1)	NP_001269607.1:p.Thr971Arg