Canonical Allele Identifier: CA368167584

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs61750427
• gnomAD v2: 7-92123671-A-T
• gnomAD v4: 7-92494357-A-T
• MyVariant Identifiers: chr7:g.92123671A>T (hg19) ; chr7:g.92494357A>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2966T>A (PEX1) MANE Select	ENSP00000248633.4:p.Ile989Asn
ENST00000248633.8:c.2966T>A (PEX1)	ENSP00000248633.4:p.Ile989Asn
ENST00000428214.5:c.2795T>A (PEX1)	ENSP00000394413.1:p.Ile932Asn
ENST00000438045.5:c.2000T>A (PEX1)	ENSP00000410438.1:p.Ile667Asn
ENST00000484913.5:n.3005T>A (PEX1)
ENST00000496420.5:n.2858T>A (PEX1)
NM_000466.2:c.2966T>A (PEX1)	NP_000457.1:p.Ile989Asn
NM_001282677.1:c.2795T>A (PEX1)	NP_001269606.1:p.Ile932Asn
NM_001282678.1:c.2342T>A (PEX1)	NP_001269607.1:p.Ile781Asn
XM_005250433.3:c.1217T>A (PEX1)	XP_005250490.1:p.Ile406Asn
XR_242246.3:n.3062T>A (PEX1)
XM_017012319.2:c.1217T>A (PEX1)	XP_016867808.1:p.Ile406Asn
XR_001744808.2:n.1993T>A (PEX1)
XR_001744843.2:n.5326A>T (GATAD1)
XR_242246.5:n.3013T>A (PEX1)
XR_927494.3:n.4177A>T (GATAD1)
XR_927503.3:n.4108A>T (GATAD1)
NM_000466.3:c.2966T>A (PEX1) MANE Select	NP_000457.1:p.Ile989Asn
NM_001282677.2:c.2795T>A (PEX1)	NP_001269606.1:p.Ile932Asn
NM_001282678.2:c.2342T>A (PEX1)	NP_001269607.1:p.Ile781Asn