Canonical Allele Identifier: CA368167691

Gene: PEX1 GATAD1

Linked Data

• ClinVar Variation Id: 2102972
• ClinVar RCV Id: RCV003019793
• MyVariant Identifiers: chr7:g.92123686C>T (hg19) ; chr7:g.92494372C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494372C>T , CM000669.2:g.92494372C>T	GRCh38
NC_000007.13:g.92123686C>T , CM000669.1:g.92123686C>T	GRCh37
NC_000007.12:g.91961622C>T	NCBI36
NG_008341.1:g.39160G>A
NG_008341.2:g.39160G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2951G>A (PEX1) MANE Select	ENSP00000248633.4:p.Ser984Asn
ENST00000248633.8:c.2951G>A (PEX1)	ENSP00000248633.4:p.Ser984Asn
ENST00000428214.5:c.2780G>A (PEX1)	ENSP00000394413.1:p.Ser927Asn
ENST00000438045.5:c.1985G>A (PEX1)	ENSP00000410438.1:p.Ser662Asn
ENST00000484913.5:n.2990G>A (PEX1)
ENST00000496420.5:n.2843G>A (PEX1)
NM_000466.2:c.2951G>A (PEX1)	NP_000457.1:p.Ser984Asn
NM_001282677.1:c.2780G>A (PEX1)	NP_001269606.1:p.Ser927Asn
NM_001282678.1:c.2327G>A (PEX1)	NP_001269607.1:p.Ser776Asn
XM_005250433.3:c.1202G>A (PEX1)	XP_005250490.1:p.Ser401Asn
XR_242246.3:n.3047G>A (PEX1)
XM_017012319.2:c.1202G>A (PEX1)	XP_016867808.1:p.Ser401Asn
XR_001744808.2:n.1978G>A (PEX1)
XR_001744843.2:n.5341C>T (GATAD1)
XR_242246.5:n.2998G>A (PEX1)
XR_927494.3:n.4192C>T (GATAD1)
XR_927503.3:n.4123C>T (GATAD1)
NM_000466.3:c.2951G>A (PEX1) MANE Select	NP_000457.1:p.Ser984Asn
NM_001282677.2:c.2780G>A (PEX1)	NP_001269606.1:p.Ser927Asn
NM_001282678.2:c.2327G>A (PEX1)	NP_001269607.1:p.Ser776Asn