Canonical Allele Identifier: CA368160212

Gene: PEX1 GATAD1

Linked Data

• gnomAD v4: 7-92489401-G-C
• MyVariant Identifiers: chr7:g.92118715G>C (hg19) ; chr7:g.92489401G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489401G>C , CM000669.2:g.92489401G>C	GRCh38
NC_000007.13:g.92118715G>C , CM000669.1:g.92118715G>C	GRCh37
NC_000007.12:g.91956651G>C	NCBI36
NG_008341.1:g.44131C>G
NG_008341.2:g.44131C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3659C>G (PEX1) MANE Select	ENSP00000248633.4:p.Pro1220Arg
ENST00000248633.8:c.3659C>G (PEX1)	ENSP00000248633.4:p.Pro1220Arg
ENST00000428214.5:c.3488C>G (PEX1)	ENSP00000394413.1:p.Pro1163Arg
ENST00000438045.5:c.2693C>G (PEX1)	ENSP00000410438.1:p.Pro898Arg
ENST00000469417.1:n.556C>G (PEX1)
ENST00000477342.1:n.394C>G (PEX1)
ENST00000484913.5:n.3698C>G (PEX1)
ENST00000496420.5:n.4709C>G (PEX1)
NM_000466.2:c.3659C>G (PEX1)	NP_000457.1:p.Pro1220Arg
NM_001282677.1:c.3488C>G (PEX1)	NP_001269606.1:p.Pro1163Arg
NM_001282678.1:c.3035C>G (PEX1)	NP_001269607.1:p.Pro1012Arg
XM_005250433.3:c.1910C>G (PEX1)	XP_005250490.1:p.Pro637Arg
XR_242246.3:n.3750C>G (PEX1)
XR_927494.1:n.1036-1842G>C (GATAD1)
XR_927495.1:n.1036-685G>C (GATAD1)
XR_927496.1:n.1041-1842G>C (GATAD1)
XR_927497.1:n.1036-685G>C (GATAD1)
XR_927498.1:n.1124-1842G>C (GATAD1)
XR_927500.1:n.1033-1842G>C (GATAD1)
XR_927502.1:n.1033-685G>C (GATAD1)
XR_927503.1:n.967-1842G>C (GATAD1)
XM_017012319.2:c.1910C>G (PEX1)	XP_016867808.1:p.Pro637Arg
XR_001744808.2:n.2681C>G (PEX1)
XR_001744842.2:n.2281-1842G>C (GATAD1)
XR_001744843.2:n.2212-1842G>C (GATAD1)
XR_002956472.1:n.2281-685G>C (GATAD1)
XR_002956473.1:n.2369-1842G>C (GATAD1)
XR_002956474.1:n.2286-1842G>C (GATAD1)
XR_242246.5:n.3701C>G (PEX1)
XR_927494.3:n.1063-1842G>C (GATAD1)
XR_927500.3:n.1060-1842G>C (GATAD1)
XR_927503.3:n.994-1842G>C (GATAD1)
NM_000466.3:c.3659C>G (PEX1) MANE Select	NP_000457.1:p.Pro1220Arg
NM_001282677.2:c.3488C>G (PEX1)	NP_001269606.1:p.Pro1163Arg
NM_001282678.2:c.3035C>G (PEX1)	NP_001269607.1:p.Pro1012Arg