Canonical Allele Identifier: CA368159316

Gene: PEX1 GATAD1

Linked Data

• gnomAD v4: 7-92489323-C-T
• MyVariant Identifiers: chr7:g.92118637C>T (hg19) ; chr7:g.92489323C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489323C>T , CM000669.2:g.92489323C>T	GRCh38
NC_000007.13:g.92118637C>T , CM000669.1:g.92118637C>T	GRCh37
NC_000007.12:g.91956573C>T	NCBI36
NG_008341.1:g.44209G>A
NG_008341.2:g.44209G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3737G>A (PEX1) MANE Select	ENSP00000248633.4:p.Ser1246Asn
ENST00000248633.8:c.3737G>A (PEX1)	ENSP00000248633.4:p.Ser1246Asn
ENST00000428214.5:c.3566G>A (PEX1)	ENSP00000394413.1:p.Ser1189Asn
ENST00000438045.5:c.2771G>A (PEX1)	ENSP00000410438.1:p.Ser924Asn
ENST00000477342.1:n.472G>A (PEX1)
ENST00000484913.5:n.3776G>A (PEX1)
ENST00000496420.5:n.4787G>A (PEX1)
NM_000466.2:c.3737G>A (PEX1)	NP_000457.1:p.Ser1246Asn
NM_001282677.1:c.3566G>A (PEX1)	NP_001269606.1:p.Ser1189Asn
NM_001282678.1:c.3113G>A (PEX1)	NP_001269607.1:p.Ser1038Asn
XM_005250433.3:c.1988G>A (PEX1)	XP_005250490.1:p.Ser663Asn
XR_242246.3:n.3828G>A (PEX1)
XR_927494.1:n.1036-1920C>T (GATAD1)
XR_927495.1:n.1036-763C>T (GATAD1)
XR_927496.1:n.1041-1920C>T (GATAD1)
XR_927497.1:n.1036-763C>T (GATAD1)
XR_927498.1:n.1124-1920C>T (GATAD1)
XR_927500.1:n.1033-1920C>T (GATAD1)
XR_927502.1:n.1033-763C>T (GATAD1)
XR_927503.1:n.967-1920C>T (GATAD1)
XM_017012319.2:c.1988G>A (PEX1)	XP_016867808.1:p.Ser663Asn
XR_001744808.2:n.2759G>A (PEX1)
XR_001744842.2:n.2281-1920C>T (GATAD1)
XR_001744843.2:n.2212-1920C>T (GATAD1)
XR_002956472.1:n.2281-763C>T (GATAD1)
XR_002956473.1:n.2369-1920C>T (GATAD1)
XR_002956474.1:n.2286-1920C>T (GATAD1)
XR_242246.5:n.3779G>A (PEX1)
XR_927494.3:n.1063-1920C>T (GATAD1)
XR_927500.3:n.1060-1920C>T (GATAD1)
XR_927503.3:n.994-1920C>T (GATAD1)
NM_000466.3:c.3737G>A (PEX1) MANE Select	NP_000457.1:p.Ser1246Asn
NM_001282677.2:c.3566G>A (PEX1)	NP_001269606.1:p.Ser1189Asn
NM_001282678.2:c.3113G>A (PEX1)	NP_001269607.1:p.Ser1038Asn