Canonical Allele Identifier: CA456624056

Gene: PEX1 GATAD1

Linked Data

• ClinVar Variation Id: 1665312
• ClinVar RCV Id: RCV002193656
• dbSNP Id: rs2116058613
• MyVariant Identifiers: chr7:g.92120694A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491380A>G , CM000669.2:g.92491380A>G	GRCh38
NC_000007.13:g.92120694A>G , CM000669.1:g.92120694A>G	GRCh37
NC_000007.12:g.91958630A>G	NCBI36
NG_008341.1:g.42152T>C
NG_008341.2:g.42152T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3330T>C (PEX1) MANE Select	ENSP00000248633.4:p.Ser1110=
ENST00000248633.8:c.3330T>C (PEX1)	ENSP00000248633.4:p.Ser1110=
ENST00000428214.5:c.3159T>C (PEX1)	ENSP00000394413.1:p.Ser1053=
ENST00000438045.5:c.2364T>C (PEX1)	ENSP00000410438.1:p.Ser788=
ENST00000484913.5:n.3369T>C (PEX1)
ENST00000496420.5:n.4385T>C (PEX1)
NM_000466.2:c.3330T>C (PEX1)	NP_000457.1:p.Ser1110=
NM_001282677.1:c.3159T>C (PEX1)	NP_001269606.1:p.Ser1053=
NM_001282678.1:c.2706T>C (PEX1)	NP_001269607.1:p.Ser902=
XM_005250433.3:c.1581T>C (PEX1)	XP_005250490.1:p.Ser527=
XR_242246.3:n.3426T>C (PEX1)
XM_017012319.2:c.1581T>C (PEX1)	XP_016867808.1:p.Ser527=
XR_001744808.2:n.2357T>C (PEX1)
XR_001744842.2:n.2418A>G (GATAD1)
XR_001744843.2:n.2349A>G (GATAD1)
XR_002956472.1:n.2475A>G (GATAD1)
XR_002956473.1:n.2506A>G (GATAD1)
XR_002956474.1:n.2423A>G (GATAD1)
XR_242246.5:n.3377T>C (PEX1)
XR_927494.3:n.1200A>G (GATAD1)
XR_927500.3:n.1197A>G (GATAD1)
XR_927503.3:n.1131A>G (GATAD1)
NM_000466.3:c.3330T>C (PEX1) MANE Select	NP_000457.1:p.Ser1110=
NM_001282677.2:c.3159T>C (PEX1)	NP_001269606.1:p.Ser1053=
NM_001282678.2:c.2706T>C (PEX1)	NP_001269607.1:p.Ser902=