Canonical Allele Identifier: CA4340857

Gene: PEX1 GATAD1

Linked Data

• ClinVar Variation Id: 1100423
• ClinVar RCV Id: RCV001423048
• dbSNP Id: rs577474412
• ExAC: 7:92120742 G / A
• gnomAD v2: 7-92120742-G-A
• gnomAD v3: 7-92491428-G-A
• gnomAD v4: 7-92491428-G-A
• MyVariant Identifiers: chr7:g.92120742G>A (hg19) ; chr7:g.92491428G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491428G>A , CM000669.2:g.92491428G>A	GRCh38
NC_000007.13:g.92120742G>A , CM000669.1:g.92120742G>A	GRCh37
NC_000007.12:g.91958678G>A	NCBI36
NG_008341.1:g.42104C>T
NG_008341.2:g.42104C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3282C>T (PEX1) MANE Select	ENSP00000248633.4:p.Asp1094=
ENST00000248633.8:c.3282C>T (PEX1)	ENSP00000248633.4:p.Asp1094=
ENST00000428214.5:c.3111C>T (PEX1)	ENSP00000394413.1:p.Asp1037=
ENST00000438045.5:c.2316C>T (PEX1)	ENSP00000410438.1:p.Asp772=
ENST00000484913.5:n.3321C>T (PEX1)
ENST00000496420.5:n.4337C>T (PEX1)
NM_000466.2:c.3282C>T (PEX1)	NP_000457.1:p.Asp1094=
NM_001282677.1:c.3111C>T (PEX1)	NP_001269606.1:p.Asp1037=
NM_001282678.1:c.2658C>T (PEX1)	NP_001269607.1:p.Asp886=
XM_005250433.3:c.1533C>T (PEX1)	XP_005250490.1:p.Asp511=
XR_242246.3:n.3378C>T (PEX1)
XM_017012319.2:c.1533C>T (PEX1)	XP_016867808.1:p.Asp511=
XR_001744808.2:n.2309C>T (PEX1)
XR_001744842.2:n.2466G>A (GATAD1)
XR_001744843.2:n.2397G>A (GATAD1)
XR_002956472.1:n.2523G>A (GATAD1)
XR_002956473.1:n.2554G>A (GATAD1)
XR_002956474.1:n.2471G>A (GATAD1)
XR_242246.5:n.3329C>T (PEX1)
XR_927494.3:n.1248G>A (GATAD1)
XR_927500.3:n.1245G>A (GATAD1)
XR_927503.3:n.1179G>A (GATAD1)
NM_000466.3:c.3282C>T (PEX1) MANE Select	NP_000457.1:p.Asp1094=
NM_001282677.2:c.3111C>T (PEX1)	NP_001269606.1:p.Asp1037=
NM_001282678.2:c.2658C>T (PEX1)	NP_001269607.1:p.Asp886=