Canonical Allele Identifier: CA161953179

Gene: PEX1 GATAD1

Linked Data

• ClinVar Variation Id: 2192383
• ClinVar RCV Id: RCV002633168
• dbSNP Id: rs1053411287
• gnomAD v2: 7-92120744-C-T
• gnomAD v3: 7-92491430-C-T
• gnomAD v4: 7-92491430-C-T
• MyVariant Identifiers: chr7:g.92120744C>T (hg19) ; chr7:g.92491430C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491430C>T , CM000669.2:g.92491430C>T	GRCh38
NC_000007.13:g.92120744C>T , CM000669.1:g.92120744C>T	GRCh37
NC_000007.12:g.91958680C>T	NCBI36
NG_008341.1:g.42102G>A
NG_008341.2:g.42102G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3280G>A (PEX1) MANE Select	ENSP00000248633.4:p.Asp1094Asn
ENST00000248633.8:c.3280G>A (PEX1)	ENSP00000248633.4:p.Asp1094Asn
ENST00000428214.5:c.3109G>A (PEX1)	ENSP00000394413.1:p.Asp1037Asn
ENST00000438045.5:c.2314G>A (PEX1)	ENSP00000410438.1:p.Asp772Asn
ENST00000484913.5:n.3319G>A (PEX1)
ENST00000496420.5:n.4335G>A (PEX1)
NM_000466.2:c.3280G>A (PEX1)	NP_000457.1:p.Asp1094Asn
NM_001282677.1:c.3109G>A (PEX1)	NP_001269606.1:p.Asp1037Asn
NM_001282678.1:c.2656G>A (PEX1)	NP_001269607.1:p.Asp886Asn
XM_005250433.3:c.1531G>A (PEX1)	XP_005250490.1:p.Asp511Asn
XR_242246.3:n.3376G>A (PEX1)
XM_017012319.2:c.1531G>A (PEX1)	XP_016867808.1:p.Asp511Asn
XR_001744808.2:n.2307G>A (PEX1)
XR_001744842.2:n.2468C>T (GATAD1)
XR_001744843.2:n.2399C>T (GATAD1)
XR_002956472.1:n.2525C>T (GATAD1)
XR_002956473.1:n.2556C>T (GATAD1)
XR_002956474.1:n.2473C>T (GATAD1)
XR_242246.5:n.3327G>A (PEX1)
XR_927494.3:n.1250C>T (GATAD1)
XR_927500.3:n.1247C>T (GATAD1)
XR_927503.3:n.1181C>T (GATAD1)
NM_000466.3:c.3280G>A (PEX1) MANE Select	NP_000457.1:p.Asp1094Asn
NM_001282677.2:c.3109G>A (PEX1)	NP_001269606.1:p.Asp1037Asn
NM_001282678.2:c.2656G>A (PEX1)	NP_001269607.1:p.Asp886Asn