Canonical Allele Identifier: CA4340842

Gene: PEX1 GATAD1

Linked Data

• ClinVar Variation Id: 2202226
• ClinVar RCV Id: RCV003269525 ; RCV002647887
• dbSNP Id: rs769066970
• ExAC: 7:92120645 G / A
• gnomAD v2: 7-92120645-G-A
• gnomAD v3: 7-92491331-G-A
• gnomAD v4: 7-92491331-G-A
• MyVariant Identifiers: chr7:g.92120645G>A (hg19) ; chr7:g.92491331G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491331G>A , CM000669.2:g.92491331G>A	GRCh38
NC_000007.13:g.92120645G>A , CM000669.1:g.92120645G>A	GRCh37
NC_000007.12:g.91958581G>A	NCBI36
NG_008341.1:g.42201C>T
NG_008341.2:g.42201C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3379C>T (PEX1) MANE Select	ENSP00000248633.4:p.Arg1127Trp
ENST00000248633.8:c.3379C>T (PEX1)	ENSP00000248633.4:p.Arg1127Trp
ENST00000428214.5:c.3208C>T (PEX1)	ENSP00000394413.1:p.Arg1070Trp
ENST00000438045.5:c.2413C>T (PEX1)	ENSP00000410438.1:p.Arg805Trp
ENST00000484913.5:n.3418C>T (PEX1)
ENST00000496420.5:n.4434C>T (PEX1)
NM_000466.2:c.3379C>T (PEX1)	NP_000457.1:p.Arg1127Trp
NM_001282677.1:c.3208C>T (PEX1)	NP_001269606.1:p.Arg1070Trp
NM_001282678.1:c.2755C>T (PEX1)	NP_001269607.1:p.Arg919Trp
XM_005250433.3:c.1630C>T (PEX1)	XP_005250490.1:p.Arg544Trp
XR_242246.3:n.3475C>T (PEX1)
XM_017012319.2:c.1630C>T (PEX1)	XP_016867808.1:p.Arg544Trp
XR_001744808.2:n.2406C>T (PEX1)
XR_001744842.2:n.2369G>A (GATAD1)
XR_001744843.2:n.2300G>A (GATAD1)
XR_002956472.1:n.2426G>A (GATAD1)
XR_002956473.1:n.2457G>A (GATAD1)
XR_002956474.1:n.2374G>A (GATAD1)
XR_242246.5:n.3426C>T (PEX1)
XR_927494.3:n.1151G>A (GATAD1)
XR_927500.3:n.1148G>A (GATAD1)
XR_927503.3:n.1082G>A (GATAD1)
NM_000466.3:c.3379C>T (PEX1) MANE Select	NP_000457.1:p.Arg1127Trp
NM_001282677.2:c.3208C>T (PEX1)	NP_001269606.1:p.Arg1070Trp
NM_001282678.2:c.2755C>T (PEX1)	NP_001269607.1:p.Arg919Trp