Canonical Allele Identifier: CA456481598

Gene: PEX1 GATAD1

Linked Data

• gnomAD v4: 7-92494538-G-T
• MyVariant Identifiers: chr7:g.92123852G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494538G>T , CM000669.2:g.92494538G>T	GRCh38
NC_000007.13:g.92123852G>T , CM000669.1:g.92123852G>T	GRCh37
NC_000007.12:g.91961788G>T	NCBI36
NG_008341.1:g.38994C>A
NG_008341.2:g.38994C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2875C>A (PEX1) MANE Select	ENSP00000248633.4:p.Arg959=
ENST00000248633.8:c.2875C>A (PEX1)	ENSP00000248633.4:p.Arg959=
ENST00000428214.5:c.2704C>A (PEX1)	ENSP00000394413.1:p.Arg902=
ENST00000438045.5:c.1909C>A (PEX1)	ENSP00000410438.1:p.Arg637=
ENST00000484913.5:n.2914C>A (PEX1)
ENST00000496420.5:n.2767C>A (PEX1)
NM_000466.2:c.2875C>A (PEX1)	NP_000457.1:p.Arg959=
NM_001282677.1:c.2704C>A (PEX1)	NP_001269606.1:p.Arg902=
NM_001282678.1:c.2251C>A (PEX1)	NP_001269607.1:p.Arg751=
XM_005250433.3:c.1126C>A (PEX1)	XP_005250490.1:p.Arg376=
XR_242246.3:n.2971C>A (PEX1)
XM_017012319.2:c.1126C>A (PEX1)	XP_016867808.1:p.Arg376=
XR_001744808.2:n.1902C>A (PEX1)
XR_001744843.2:n.5507G>T (GATAD1)
XR_242246.5:n.2922C>A (PEX1)
XR_927494.3:n.4358G>T (GATAD1)
XR_927503.3:n.4289G>T (GATAD1)
NM_000466.3:c.2875C>A (PEX1) MANE Select	NP_000457.1:p.Arg959=
NM_001282677.2:c.2704C>A (PEX1)	NP_001269606.1:p.Arg902=
NM_001282678.2:c.2251C>A (PEX1)	NP_001269607.1:p.Arg751=