Canonical Allele Identifier: CA4340947

Gene: PEX1 GATAD1

Linked Data

• ClinVar Variation Id: 224325
• ClinVar RCV Id: RCV000240787 ; RCV001004317 ; RCV002229187 ; RCV002251446 ; RCV002515571 ; RCV003226251
• dbSNP Id: rs61750427
• ExAC: 7:92123671 A / G
• gnomAD v2: 7-92123671-A-G
• gnomAD v3: 7-92494357-A-G
• gnomAD v4: 7-92494357-A-G
• MyVariant Identifiers: chr7:g.92123671A>G (hg19) ; chr7:g.92494357A>G (hg38)
• PubMed: PMID:16088892 ; PMID:27302843

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494357A>G , CM000669.2:g.92494357A>G	GRCh38
NC_000007.13:g.92123671A>G , CM000669.1:g.92123671A>G	GRCh37
NC_000007.12:g.91961607A>G	NCBI36
NG_008341.1:g.39175T>C
NG_008341.2:g.39175T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2966T>C (PEX1) MANE Select	ENSP00000248633.4:p.Ile989Thr
ENST00000248633.8:c.2966T>C (PEX1)	ENSP00000248633.4:p.Ile989Thr
ENST00000428214.5:c.2795T>C (PEX1)	ENSP00000394413.1:p.Ile932Thr
ENST00000438045.5:c.2000T>C (PEX1)	ENSP00000410438.1:p.Ile667Thr
ENST00000484913.5:n.3005T>C (PEX1)
ENST00000496420.5:n.2858T>C (PEX1)
NM_000466.2:c.2966T>C (PEX1)	NP_000457.1:p.Ile989Thr
NM_001282677.1:c.2795T>C (PEX1)	NP_001269606.1:p.Ile932Thr
NM_001282678.1:c.2342T>C (PEX1)	NP_001269607.1:p.Ile781Thr
XM_005250433.3:c.1217T>C (PEX1)	XP_005250490.1:p.Ile406Thr
XR_242246.3:n.3062T>C (PEX1)
XM_017012319.2:c.1217T>C (PEX1)	XP_016867808.1:p.Ile406Thr
XR_001744808.2:n.1993T>C (PEX1)
XR_001744843.2:n.5326A>G (GATAD1)
XR_242246.5:n.3013T>C (PEX1)
XR_927494.3:n.4177A>G (GATAD1)
XR_927503.3:n.4108A>G (GATAD1)
NM_000466.3:c.2966T>C (PEX1) MANE Select	NP_000457.1:p.Ile989Thr
NM_001282677.2:c.2795T>C (PEX1)	NP_001269606.1:p.Ile932Thr
NM_001282678.2:c.2342T>C (PEX1)	NP_001269607.1:p.Ile781Thr