Canonical Allele Identifier: CA368163489

Gene: PEX1 GATAD1

Linked Data

• ClinVar Variation Id: 1381397
• ClinVar RCV Id: RCV001895338
• dbSNP Id: rs2116057948
• MyVariant Identifiers: chr7:g.92120629C>T (hg19) ; chr7:g.92491315C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491315C>T , CM000669.2:g.92491315C>T	GRCh38
NC_000007.13:g.92120629C>T , CM000669.1:g.92120629C>T	GRCh37
NC_000007.12:g.91958565C>T	NCBI36
NG_008341.1:g.42217G>A
NG_008341.2:g.42217G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3395G>A (PEX1) MANE Select	ENSP00000248633.4:p.Ser1132Asn
ENST00000248633.8:c.3395G>A (PEX1)	ENSP00000248633.4:p.Ser1132Asn
ENST00000428214.5:c.3224G>A (PEX1)	ENSP00000394413.1:p.Ser1075Asn
ENST00000438045.5:c.2429G>A (PEX1)	ENSP00000410438.1:p.Ser810Asn
ENST00000484913.5:n.3434G>A (PEX1)
ENST00000496420.5:n.4450G>A (PEX1)
NM_000466.2:c.3395G>A (PEX1)	NP_000457.1:p.Ser1132Asn
NM_001282677.1:c.3224G>A (PEX1)	NP_001269606.1:p.Ser1075Asn
NM_001282678.1:c.2771G>A (PEX1)	NP_001269607.1:p.Ser924Asn
XM_005250433.3:c.1646G>A (PEX1)	XP_005250490.1:p.Ser549Asn
XR_242246.3:n.3491G>A (PEX1)
XR_927494.1:n.1108C>T (GATAD1)
XR_927496.1:n.1113C>T (GATAD1)
XR_927497.1:n.1165C>T (GATAD1)
XR_927498.1:n.1196C>T (GATAD1)
XR_927500.1:n.1105C>T (GATAD1)
XR_927503.1:n.1039C>T (GATAD1)
XM_017012319.2:c.1646G>A (PEX1)	XP_016867808.1:p.Ser549Asn
XR_001744808.2:n.2422G>A (PEX1)
XR_001744842.2:n.2353C>T (GATAD1)
XR_001744843.2:n.2284C>T (GATAD1)
XR_002956472.1:n.2410C>T (GATAD1)
XR_002956473.1:n.2441C>T (GATAD1)
XR_002956474.1:n.2358C>T (GATAD1)
XR_242246.5:n.3442G>A (PEX1)
XR_927494.3:n.1135C>T (GATAD1)
XR_927500.3:n.1132C>T (GATAD1)
XR_927503.3:n.1066C>T (GATAD1)
NM_000466.3:c.3395G>A (PEX1) MANE Select	NP_000457.1:p.Ser1132Asn
NM_001282677.2:c.3224G>A (PEX1)	NP_001269606.1:p.Ser1075Asn
NM_001282678.2:c.2771G>A (PEX1)	NP_001269607.1:p.Ser924Asn