Canonical Allele Identifier: CA368163507

Gene: PEX1 GATAD1

Linked Data

• gnomAD v4: 7-92491318-C-T
• MyVariant Identifiers: chr7:g.92120632C>T (hg19) ; chr7:g.92491318C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491318C>T , CM000669.2:g.92491318C>T	GRCh38
NC_000007.13:g.92120632C>T , CM000669.1:g.92120632C>T	GRCh37
NC_000007.12:g.91958568C>T	NCBI36
NG_008341.1:g.42214G>A
NG_008341.2:g.42214G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.3392G>A (PEX1) MANE Select	ENSP00000248633.4:p.Gly1131Glu
ENST00000248633.8:c.3392G>A (PEX1)	ENSP00000248633.4:p.Gly1131Glu
ENST00000428214.5:c.3221G>A (PEX1)	ENSP00000394413.1:p.Gly1074Glu
ENST00000438045.5:c.2426G>A (PEX1)	ENSP00000410438.1:p.Gly809Glu
ENST00000484913.5:n.3431G>A (PEX1)
ENST00000496420.5:n.4447G>A (PEX1)
NM_000466.2:c.3392G>A (PEX1)	NP_000457.1:p.Gly1131Glu
NM_001282677.1:c.3221G>A (PEX1)	NP_001269606.1:p.Gly1074Glu
NM_001282678.1:c.2768G>A (PEX1)	NP_001269607.1:p.Gly923Glu
XM_005250433.3:c.1643G>A (PEX1)	XP_005250490.1:p.Gly548Glu
XR_242246.3:n.3488G>A (PEX1)
XR_927494.1:n.1111C>T (GATAD1)
XR_927496.1:n.1116C>T (GATAD1)
XR_927497.1:n.1168C>T (GATAD1)
XR_927498.1:n.1199C>T (GATAD1)
XR_927500.1:n.1108C>T (GATAD1)
XR_927503.1:n.1042C>T (GATAD1)
XM_017012319.2:c.1643G>A (PEX1)	XP_016867808.1:p.Gly548Glu
XR_001744808.2:n.2419G>A (PEX1)
XR_001744842.2:n.2356C>T (GATAD1)
XR_001744843.2:n.2287C>T (GATAD1)
XR_002956472.1:n.2413C>T (GATAD1)
XR_002956473.1:n.2444C>T (GATAD1)
XR_002956474.1:n.2361C>T (GATAD1)
XR_242246.5:n.3439G>A (PEX1)
XR_927494.3:n.1138C>T (GATAD1)
XR_927500.3:n.1135C>T (GATAD1)
XR_927503.3:n.1069C>T (GATAD1)
NM_000466.3:c.3392G>A (PEX1) MANE Select	NP_000457.1:p.Gly1131Glu
NM_001282677.2:c.3221G>A (PEX1)	NP_001269606.1:p.Gly1074Glu
NM_001282678.2:c.2768G>A (PEX1)	NP_001269607.1:p.Gly923Glu