Canonical Allele Identifier: CA2740097394

Gene: PEX1 GATAD1

Linked Data

• ClinVar Variation Id: 3013395
• ClinVar RCV Id: RCV003870490

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491311dup , CM000669.2:g.92491311dup	GRCh38
NC_000007.13:g.92120625dup , CM000669.1:g.92120625dup	GRCh37
NC_000007.12:g.91958561dup	NCBI36
NG_008341.1:g.42222dup
NG_008341.2:g.42222dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.3400dup (PEX1) MANE Select	ENSP00000248633.4:p.Tyr1134LeufsTer2
ENST00000248633.8:c.3400dup (PEX1)	ENSP00000248633.4:p.Tyr1134LeufsTer2
ENST00000428214.5:c.3229dup (PEX1)	ENSP00000394413.1:p.Tyr1077LeufsTer2
ENST00000438045.5:c.2434dup (PEX1)	ENSP00000410438.1:p.Tyr812LeufsTer2
ENST00000484913.5:n.3439dup (PEX1)
ENST00000496420.5:n.4455dup (PEX1)
NM_000466.2:c.3400dup (PEX1)	NP_000457.1:p.Tyr1134LeufsTer2
NM_001282677.1:c.3229dup (PEX1)	NP_001269606.1:p.Tyr1077LeufsTer2
NM_001282678.1:c.2776dup (PEX1)	NP_001269607.1:p.Tyr926LeufsTer2
XM_005250433.3:c.1651dup (PEX1)	XP_005250490.1:p.Tyr551LeufsTer2
XR_242246.3:n.3496dup (PEX1)
XR_927494.1:n.1104dup (GATAD1)
XR_927496.1:n.1109dup (GATAD1)
XR_927497.1:n.1161dup (GATAD1)
XR_927498.1:n.1192dup (GATAD1)
XR_927500.1:n.1101dup (GATAD1)
XR_927503.1:n.1035dup (GATAD1)
XM_017012319.2:c.1651dup (PEX1)	XP_016867808.1:p.Tyr551LeufsTer2
XR_001744808.2:n.2427dup (PEX1)
XR_001744842.2:n.2349dup (GATAD1)
XR_001744843.2:n.2280dup (GATAD1)
XR_002956472.1:n.2406dup (GATAD1)
XR_002956473.1:n.2437dup (GATAD1)
XR_002956474.1:n.2354dup (GATAD1)
XR_242246.5:n.3447dup (PEX1)
XR_927494.3:n.1131dup (GATAD1)
XR_927500.3:n.1128dup (GATAD1)
XR_927503.3:n.1062dup (GATAD1)
NM_000466.3:c.3400dup (PEX1) MANE Select	NP_000457.1:p.Tyr1134LeufsTer2
NM_001282677.2:c.3229dup (PEX1)	NP_001269606.1:p.Tyr1077LeufsTer2
NM_001282678.2:c.2776dup (PEX1)	NP_001269607.1:p.Tyr926LeufsTer2