Canonical Allele Identifier: CA4340865

Gene: PEX1 GATAD1

Linked Data

• ClinVar Variation Id: 2912625
• ClinVar RCV Id: RCV003760520
• dbSNP Id: rs749727461
• ExAC: 7:92120796 A / G
• gnomAD v2: 7-92120796-A-G
• gnomAD v3: 7-92491482-A-G
• gnomAD v4: 7-92491482-A-G
• MyVariant Identifiers: chr7:g.92120796A>G (hg19) ; chr7:g.92491482A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491482A>G , CM000669.2:g.92491482A>G	GRCh38
NC_000007.13:g.92120796A>G , CM000669.1:g.92120796A>G	GRCh37
NC_000007.12:g.91958732A>G	NCBI36
NG_008341.1:g.42050T>C
NG_008341.2:g.42050T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3228T>C (PEX1) MANE Select	ENSP00000248633.4:p.Asp1076=
ENST00000248633.8:c.3228T>C (PEX1)	ENSP00000248633.4:p.Asp1076=
ENST00000428214.5:c.3057T>C (PEX1)	ENSP00000394413.1:p.Asp1019=
ENST00000438045.5:c.2262T>C (PEX1)	ENSP00000410438.1:p.Asp754=
ENST00000484913.5:n.3267T>C (PEX1)
ENST00000496420.5:n.4283T>C (PEX1)
NM_000466.2:c.3228T>C (PEX1)	NP_000457.1:p.Asp1076=
NM_001282677.1:c.3057T>C (PEX1)	NP_001269606.1:p.Asp1019=
NM_001282678.1:c.2604T>C (PEX1)	NP_001269607.1:p.Asp868=
XM_005250433.3:c.1479T>C (PEX1)	XP_005250490.1:p.Asp493=
XR_242246.3:n.3324T>C (PEX1)
XM_017012319.2:c.1479T>C (PEX1)	XP_016867808.1:p.Asp493=
XR_001744808.2:n.2255T>C (PEX1)
XR_001744842.2:n.2520A>G (GATAD1)
XR_001744843.2:n.2451A>G (GATAD1)
XR_002956472.1:n.2577A>G (GATAD1)
XR_002956473.1:n.2608A>G (GATAD1)
XR_002956474.1:n.2525A>G (GATAD1)
XR_242246.5:n.3275T>C (PEX1)
XR_927494.3:n.1302A>G (GATAD1)
XR_927500.3:n.1299A>G (GATAD1)
XR_927503.3:n.1233A>G (GATAD1)
NM_000466.3:c.3228T>C (PEX1) MANE Select	NP_000457.1:p.Asp1076=
NM_001282677.2:c.3057T>C (PEX1)	NP_001269606.1:p.Asp1019=
NM_001282678.2:c.2604T>C (PEX1)	NP_001269607.1:p.Asp868=