Canonical Allele Identifier: CA368160015

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92118700G>T (hg19) ; chr7:g.92489386G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489386G>T , CM000669.2:g.92489386G>T	GRCh38
NC_000007.13:g.92118700G>T , CM000669.1:g.92118700G>T	GRCh37
NC_000007.12:g.91956636G>T	NCBI36
NG_008341.1:g.44146C>A
NG_008341.2:g.44146C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3674C>A (PEX1) MANE Select	ENSP00000248633.4:p.Thr1225Asn
ENST00000248633.8:c.3674C>A (PEX1)	ENSP00000248633.4:p.Thr1225Asn
ENST00000428214.5:c.3503C>A (PEX1)	ENSP00000394413.1:p.Thr1168Asn
ENST00000438045.5:c.2708C>A (PEX1)	ENSP00000410438.1:p.Thr903Asn
ENST00000469417.1:n.571C>A (PEX1)
ENST00000477342.1:n.409C>A (PEX1)
ENST00000484913.5:n.3713C>A (PEX1)
ENST00000496420.5:n.4724C>A (PEX1)
NM_000466.2:c.3674C>A (PEX1)	NP_000457.1:p.Thr1225Asn
NM_001282677.1:c.3503C>A (PEX1)	NP_001269606.1:p.Thr1168Asn
NM_001282678.1:c.3050C>A (PEX1)	NP_001269607.1:p.Thr1017Asn
XM_005250433.3:c.1925C>A (PEX1)	XP_005250490.1:p.Thr642Asn
XR_242246.3:n.3765C>A (PEX1)
XR_927494.1:n.1036-1857G>T (GATAD1)
XR_927495.1:n.1036-700G>T (GATAD1)
XR_927496.1:n.1041-1857G>T (GATAD1)
XR_927497.1:n.1036-700G>T (GATAD1)
XR_927498.1:n.1124-1857G>T (GATAD1)
XR_927500.1:n.1033-1857G>T (GATAD1)
XR_927502.1:n.1033-700G>T (GATAD1)
XR_927503.1:n.967-1857G>T (GATAD1)
XM_017012319.2:c.1925C>A (PEX1)	XP_016867808.1:p.Thr642Asn
XR_001744808.2:n.2696C>A (PEX1)
XR_001744842.2:n.2281-1857G>T (GATAD1)
XR_001744843.2:n.2212-1857G>T (GATAD1)
XR_002956472.1:n.2281-700G>T (GATAD1)
XR_002956473.1:n.2369-1857G>T (GATAD1)
XR_002956474.1:n.2286-1857G>T (GATAD1)
XR_242246.5:n.3716C>A (PEX1)
XR_927494.3:n.1063-1857G>T (GATAD1)
XR_927500.3:n.1060-1857G>T (GATAD1)
XR_927503.3:n.994-1857G>T (GATAD1)
NM_000466.3:c.3674C>A (PEX1) MANE Select	NP_000457.1:p.Thr1225Asn
NM_001282677.2:c.3503C>A (PEX1)	NP_001269606.1:p.Thr1168Asn
NM_001282678.2:c.3050C>A (PEX1)	NP_001269607.1:p.Thr1017Asn