Canonical Allele Identifier: CA4340950

Gene: PEX1 GATAD1

Linked Data

• ClinVar Variation Id: 1052421
• ClinVar RCV Id: RCV001360600
• dbSNP Id: rs371988432
• ExAC: 7:92123684 G / A
• gnomAD v2: 7-92123684-G-A
• gnomAD v3: 7-92494370-G-A
• gnomAD v4: 7-92494370-G-A
• MyVariant Identifiers: chr7:g.92123684G>A (hg19) ; chr7:g.92494370G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494370G>A , CM000669.2:g.92494370G>A	GRCh38
NC_000007.13:g.92123684G>A , CM000669.1:g.92123684G>A	GRCh37
NC_000007.12:g.91961620G>A	NCBI36
NG_008341.1:g.39162C>T
NG_008341.2:g.39162C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2953C>T (PEX1) MANE Select	ENSP00000248633.4:p.Arg985Cys
ENST00000248633.8:c.2953C>T (PEX1)	ENSP00000248633.4:p.Arg985Cys
ENST00000428214.5:c.2782C>T (PEX1)	ENSP00000394413.1:p.Arg928Cys
ENST00000438045.5:c.1987C>T (PEX1)	ENSP00000410438.1:p.Arg663Cys
ENST00000484913.5:n.2992C>T (PEX1)
ENST00000496420.5:n.2845C>T (PEX1)
NM_000466.2:c.2953C>T (PEX1)	NP_000457.1:p.Arg985Cys
NM_001282677.1:c.2782C>T (PEX1)	NP_001269606.1:p.Arg928Cys
NM_001282678.1:c.2329C>T (PEX1)	NP_001269607.1:p.Arg777Cys
XM_005250433.3:c.1204C>T (PEX1)	XP_005250490.1:p.Arg402Cys
XR_242246.3:n.3049C>T (PEX1)
XM_017012319.2:c.1204C>T (PEX1)	XP_016867808.1:p.Arg402Cys
XR_001744808.2:n.1980C>T (PEX1)
XR_001744843.2:n.5339G>A (GATAD1)
XR_242246.5:n.3000C>T (PEX1)
XR_927494.3:n.4190G>A (GATAD1)
XR_927503.3:n.4121G>A (GATAD1)
NM_000466.3:c.2953C>T (PEX1) MANE Select	NP_000457.1:p.Arg985Cys
NM_001282677.2:c.2782C>T (PEX1)	NP_001269606.1:p.Arg928Cys
NM_001282678.2:c.2329C>T (PEX1)	NP_001269607.1:p.Arg777Cys