Canonical Allele Identifier: CA368164554

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92120762T>A (hg19) ; chr7:g.92491448T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491448T>A , CM000669.2:g.92491448T>A	GRCh38
NC_000007.13:g.92120762T>A , CM000669.1:g.92120762T>A	GRCh37
NC_000007.12:g.91958698T>A	NCBI36
NG_008341.1:g.42084A>T
NG_008341.2:g.42084A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3262A>T (PEX1) MANE Select	ENSP00000248633.4:p.Asn1088Tyr
ENST00000248633.8:c.3262A>T (PEX1)	ENSP00000248633.4:p.Asn1088Tyr
ENST00000428214.5:c.3091A>T (PEX1)	ENSP00000394413.1:p.Asn1031Tyr
ENST00000438045.5:c.2296A>T (PEX1)	ENSP00000410438.1:p.Asn766Tyr
ENST00000484913.5:n.3301A>T (PEX1)
ENST00000496420.5:n.4317A>T (PEX1)
NM_000466.2:c.3262A>T (PEX1)	NP_000457.1:p.Asn1088Tyr
NM_001282677.1:c.3091A>T (PEX1)	NP_001269606.1:p.Asn1031Tyr
NM_001282678.1:c.2638A>T (PEX1)	NP_001269607.1:p.Asn880Tyr
XM_005250433.3:c.1513A>T (PEX1)	XP_005250490.1:p.Asn505Tyr
XR_242246.3:n.3358A>T (PEX1)
XM_017012319.2:c.1513A>T (PEX1)	XP_016867808.1:p.Asn505Tyr
XR_001744808.2:n.2289A>T (PEX1)
XR_001744842.2:n.2486T>A (GATAD1)
XR_001744843.2:n.2417T>A (GATAD1)
XR_002956472.1:n.2543T>A (GATAD1)
XR_002956473.1:n.2574T>A (GATAD1)
XR_002956474.1:n.2491T>A (GATAD1)
XR_242246.5:n.3309A>T (PEX1)
XR_927494.3:n.1268T>A (GATAD1)
XR_927500.3:n.1265T>A (GATAD1)
XR_927503.3:n.1199T>A (GATAD1)
NM_000466.3:c.3262A>T (PEX1) MANE Select	NP_000457.1:p.Asn1088Tyr
NM_001282677.2:c.3091A>T (PEX1)	NP_001269606.1:p.Asn1031Tyr
NM_001282678.2:c.2638A>T (PEX1)	NP_001269607.1:p.Asn880Tyr